Canonical Allele Identifier: CA1865584108

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453587_95453735delinsTGCGGTTCTTGTCGCCGATGGCCGTCAGAAAGGCCTGTGCAATGAGGATGTTCACAAGATCAGGTTGCTGGACTTCACCTGGTAAATGCTCAGCTCTGTCCTAAATGTTACAAGCTCTCAGAACTGCTCACATCTTACTGTTTTAGTTG , CM000671.2:g.95453587_95453735delinsTGCGGTTCTTGTCGCCGATGGCCGTCAGAAAGGCCTGTGCAATGAGGATGTTCACAAGATCAGGTTGCTGGACTTCACCTGGTAAATGCTCAGCTCTGTCCTAAATGTTACAAGCTCTCAGAACTGCTCACATCTTACTGTTTTAGTTG	GRCh38
NC_000009.11:g.98215869_98216017delinsTGCGGTTCTTGTCGCCGATGGCCGTCAGAAAGGCCTGTGCAATGAGGATGTTCACAAGATCAGGTTGCTGGACTTCACCTGGTAAATGCTCAGCTCTGTCCTAAATGTTACAAGCTCTCAGAACTGCTCACATCTTACTGTTTTAGTTG , CM000671.1:g.98215869_98216017delinsTGCGGTTCTTGTCGCCGATGGCCGTCAGAAAGGCCTGTGCAATGAGGATGTTCACAAGATCAGGTTGCTGGACTTCACCTGGTAAATGCTCAGCTCTGTCCTAAATGTTACAAGCTCTCAGAACTGCTCACATCTTACTGTTTTAGTTG	GRCh37
NC_000009.10:g.97255690_97255838delinsTGCGGTTCTTGTCGCCGATGGCCGTCAGAAAGGCCTGTGCAATGAGGATGTTCACAAGATCAGGTTGCTGGACTTCACCTGGTAAATGCTCAGCTCTGTCCTAAATGTTACAAGCTCTCAGAACTGCTCACATCTTACTGTTTTAGTTG	NCBI36
NG_007664.1:g.68231_68379delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA , LRG_515:g.68231_68379delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000437951.6:c.3304-115_3337delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000690194.1:c.*1615-115_*1648delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000692981.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000693534.1:n.638-115_671delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000331920.11:c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000331920.10:c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000375274.6:c.3304-115_3337delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000375290.6:c.3076-115_3109delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000418258.5:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000421141.5:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000429896.6:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000430669.6:c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
ENST00000437951.5:c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_000264.3:c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA , LRG_515t1:c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083602.1:c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA , LRG_515t2:c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083603.1:c.3304-115_3337delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083604.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083605.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083606.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083607.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_005252102.2:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_011518868.1:c.3151-115_3184delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_011518869.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_011518870.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_011518871.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_011518872.1:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_011518873.1:c.2467-115_2500delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
XM_011518874.1:c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_000264.4:c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083602.2:c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083603.2:c.3304-115_3337delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083604.2:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083605.2:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083606.2:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083607.2:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001354918.1:c.3151-115_3184delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NR_149061.1:n.3329-115_3362delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_000264.5:c.3307-115_3340delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083606.3:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001354918.2:c.3151-115_3184delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NR_149061.2:n.4046-115_4079delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083602.3:c.3109-115_3142delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083603.3:c.3304-115_3337delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083604.3:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083605.3:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA
NM_001083607.3:c.2854-115_2887delinsCAACTAAAACAGTAAGATGTGAGCAGTTCTGAGAGCTTGTAACATTTAGGACAGAGCTGAGCATTTACCAGGTGAAGTCCAGCAACCTGATCTTGTGAACATCCTCATTGCACAGGCCTTTCTGACGGCCATCGGCGACAAGAACCGCA