Canonical Allele Identifier: CA1139661042

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 940007
• ClinVar RCV Id: RCV001209501
• dbSNP Id: rs1838664702

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453588_95453735del , CM000671.2:g.95453588_95453735del	GRCh38
NC_000009.11:g.98215870_98216017del , CM000671.1:g.98215870_98216017del	GRCh37
NC_000009.10:g.97255691_97255838del	NCBI36
NG_007664.1:g.68231_68378del , LRG_515:g.68231_68378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3109-115_3141del
ENST00000437951.6:c.3304-115_3336del
ENST00000690194.1:c.*1615-115_*1647del
ENST00000692981.1:c.2854-115_2886del
ENST00000693534.1:n.638-115_670del
ENST00000331920.11:c.3307-115_3339del
ENST00000331920.10:c.3307-115_3339del
ENST00000375274.6:c.3304-115_3336del
ENST00000375290.6:c.3076-115_3108del
ENST00000418258.5:c.2854-115_2886del
ENST00000421141.5:c.2854-115_2886del
ENST00000429896.6:c.2854-115_2886del
ENST00000430669.6:c.3109-115_3141del
ENST00000437951.5:c.3109-115_3141del
NM_000264.3:c.3307-115_3339del , LRG_515t1:c.3307-115_3339del
NM_001083602.1:c.3109-115_3141del , LRG_515t2:c.3109-115_3141del
NM_001083603.1:c.3304-115_3336del
NM_001083604.1:c.2854-115_2886del
NM_001083605.1:c.2854-115_2886del
NM_001083606.1:c.2854-115_2886del
NM_001083607.1:c.2854-115_2886del
XM_005252102.2:c.2854-115_2886del
XM_011518868.1:c.3151-115_3183del
XM_011518869.1:c.2854-115_2886del
XM_011518870.1:c.2854-115_2886del
XM_011518871.1:c.2854-115_2886del
XM_011518872.1:c.2854-115_2886del
XM_011518873.1:c.2467-115_2499del
XM_011518874.1:c.3307-115_3339del
NM_000264.4:c.3307-115_3339del
NM_001083602.2:c.3109-115_3141del
NM_001083603.2:c.3304-115_3336del
NM_001083604.2:c.2854-115_2886del
NM_001083605.2:c.2854-115_2886del
NM_001083606.2:c.2854-115_2886del
NM_001083607.2:c.2854-115_2886del
NM_001354918.1:c.3151-115_3183del
NR_149061.1:n.3329-115_3361del
NM_000264.5:c.3307-115_3339del
NM_001083606.3:c.2854-115_2886del
NM_001354918.2:c.3151-115_3183del
NR_149061.2:n.4046-115_4078del
NM_001083602.3:c.3109-115_3141del
NM_001083603.3:c.3304-115_3336del
NM_001083604.3:c.2854-115_2886del
NM_001083605.3:c.2854-115_2886del
NM_001083607.3:c.2854-115_2886del