Canonical Allele Identifier: CA2690799229

Gene: PTCH1

Linked Data

• gnomAD v4: 9-95453711-TGCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453712_95453715del , CM000671.2:g.95453712_95453715del	GRCh38
NC_000009.11:g.98215994_98215997del , CM000671.1:g.98215994_98215997del	GRCh37
NC_000009.10:g.97255815_97255818del	NCBI36
NG_007664.1:g.68251_68254del , LRG_515:g.68251_68254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3109-95_3109-92del	ENSP00000518556.1:n.3109-95_3109-92del
ENST00000437951.6:c.3304-95_3304-92del MANE Plus Clinical	ENSP00000389744.2:n.3304-95_3304-92del
ENST00000690194.1:c.*1615-95_*1615-92del	ENSP00000509379.1:n.*1615-95_*1615-92del
ENST00000692981.1:c.2854-95_2854-92del	ENSP00000510238.1:n.2854-95_2854-92del
ENST00000693534.1:n.638-95_638-92del
ENST00000331920.11:c.3307-95_3307-92del MANE Select	ENSP00000332353.6:n.3307-95_3307-92del
ENST00000331920.10:c.3307-95_3307-92del	ENSP00000332353.6:n.3307-95_3307-92del
ENST00000375274.6:c.3304-95_3304-92del	ENSP00000364423.2:n.3304-95_3304-92del
ENST00000375290.6:c.3076-95_3076-92del	ENSP00000364439.2:n.3076-95_3076-92del
ENST00000418258.5:c.2854-95_2854-92del	ENSP00000396135.1:n.2854-95_2854-92del
ENST00000421141.5:c.2854-95_2854-92del	ENSP00000399981.1:n.2854-95_2854-92del
ENST00000429896.6:c.2854-95_2854-92del	ENSP00000414823.2:n.2854-95_2854-92del
ENST00000430669.6:c.3109-95_3109-92del	ENSP00000410287.2:n.3109-95_3109-92del
ENST00000437951.5:c.3109-95_3109-92del	ENSP00000389744.1:n.3109-95_3109-92del
NM_000264.3:c.3307-95_3307-92del , LRG_515t1:c.3307-95_3307-92del	NP_000255.2:n.3307-95_3307-92del
NM_001083602.1:c.3109-95_3109-92del , LRG_515t2:c.3109-95_3109-92del	NP_001077071.1:n.3109-95_3109-92del
NM_001083603.1:c.3304-95_3304-92del	NP_001077072.1:n.3304-95_3304-92del
NM_001083604.1:c.2854-95_2854-92del	NP_001077073.1:n.2854-95_2854-92del
NM_001083605.1:c.2854-95_2854-92del	NP_001077074.1:n.2854-95_2854-92del
NM_001083606.1:c.2854-95_2854-92del	NP_001077075.1:n.2854-95_2854-92del
NM_001083607.1:c.2854-95_2854-92del	NP_001077076.1:n.2854-95_2854-92del
XM_005252102.2:c.2854-95_2854-92del	XP_005252159.1:n.2854-95_2854-92del
XM_011518868.1:c.3151-95_3151-92del	XP_011517170.1:n.3151-95_3151-92del
XM_011518869.1:c.2854-95_2854-92del	XP_011517171.1:n.2854-95_2854-92del
XM_011518870.1:c.2854-95_2854-92del	XP_011517172.1:n.2854-95_2854-92del
XM_011518871.1:c.2854-95_2854-92del	XP_011517173.1:n.2854-95_2854-92del
XM_011518872.1:c.2854-95_2854-92del	XP_011517174.1:n.2854-95_2854-92del
XM_011518873.1:c.2467-95_2467-92del	XP_011517175.1:n.2467-95_2467-92del
XM_011518874.1:c.3307-95_3307-92del	XP_011517176.1:n.3307-95_3307-92del
NM_000264.4:c.3307-95_3307-92del	NP_000255.2:n.3307-95_3307-92del
NM_001083602.2:c.3109-95_3109-92del	NP_001077071.1:n.3109-95_3109-92del
NM_001083603.2:c.3304-95_3304-92del	NP_001077072.1:n.3304-95_3304-92del
NM_001083604.2:c.2854-95_2854-92del	NP_001077073.1:n.2854-95_2854-92del
NM_001083605.2:c.2854-95_2854-92del	NP_001077074.1:n.2854-95_2854-92del
NM_001083606.2:c.2854-95_2854-92del	NP_001077075.1:n.2854-95_2854-92del
NM_001083607.2:c.2854-95_2854-92del	NP_001077076.1:n.2854-95_2854-92del
NM_001354918.1:c.3151-95_3151-92del	NP_001341847.1:n.3151-95_3151-92del
NR_149061.1:n.3329-95_3329-92del
NM_000264.5:c.3307-95_3307-92del MANE Select	NP_000255.2:n.3307-95_3307-92del
NM_001083606.3:c.2854-95_2854-92del	NP_001077075.1:n.2854-95_2854-92del
NM_001354918.2:c.3151-95_3151-92del	NP_001341847.1:n.3151-95_3151-92del
NR_149061.2:n.4046-95_4046-92del
NM_001083602.3:c.3109-95_3109-92del	NP_001077071.1:n.3109-95_3109-92del
NM_001083603.3:c.3304-95_3304-92del MANE Plus Clinical	NP_001077072.1:n.3304-95_3304-92del
NM_001083604.3:c.2854-95_2854-92del	NP_001077073.1:n.2854-95_2854-92del
NM_001083605.3:c.2854-95_2854-92del	NP_001077074.1:n.2854-95_2854-92del
NM_001083607.3:c.2854-95_2854-92del	NP_001077076.1:n.2854-95_2854-92del