Canonical Allele Identifier: CA918512141

Gene: PTCH1

Linked Data

• dbSNP Id: rs1554690418

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453504_95453505insCGCCAGCATCAGCAC , CM000671.2:g.95453504_95453505insCGCCAGCATCAGCAC	GRCh38
NC_000009.11:g.98215786_98215787insCGCCAGCATCAGCAC , CM000671.1:g.98215786_98215787insCGCCAGCATCAGCAC	GRCh37
NC_000009.10:g.97255607_97255608insCGCCAGCATCAGCAC	NCBI36
NG_007664.1:g.68462_68463insTGCTGATGCTGGCGG , LRG_515:g.68462_68463insTGCTGATGCTGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3225_3226insTGCTGATGCTGGCGG
ENST00000437951.6:c.3420_3421insTGCTGATGCTGGCGG
ENST00000690194.1:c.*1731_*1732insTGCTGATGCTGGCGG	ENSP00000509379.1:n.*1731_*1732insTGCTGATGCTGGCGG
ENST00000692981.1:c.2970_2971insTGCTGATGCTGGCGG
ENST00000693534.1:n.754_755insTGCTGATGCTGGCGG
ENST00000331920.11:c.3423_3424insTGCTGATGCTGGCGG
ENST00000331920.10:c.3423_3424insTGCTGATGCTGGCGG
ENST00000375274.6:c.3420_3421insTGCTGATGCTGGCGG
ENST00000375290.6:c.3192_3193insTGCTGATGCTGGCGG	ENSP00000364439.2:n.3192_3193insTGCTGATGCTGGCGG
ENST00000418258.5:c.2970_2971insTGCTGATGCTGGCGG
ENST00000421141.5:c.2970_2971insTGCTGATGCTGGCGG
ENST00000429896.6:c.2970_2971insTGCTGATGCTGGCGG
ENST00000430669.6:c.3225_3226insTGCTGATGCTGGCGG
ENST00000437951.5:c.3225_3226insTGCTGATGCTGGCGG
NM_000264.3:c.3423_3424insTGCTGATGCTGGCGG , LRG_515t1:c.3423_3424insTGCTGATGCTGGCGG
NM_001083602.1:c.3225_3226insTGCTGATGCTGGCGG , LRG_515t2:c.3225_3226insTGCTGATGCTGGCGG
NM_001083603.1:c.3420_3421insTGCTGATGCTGGCGG
NM_001083604.1:c.2970_2971insTGCTGATGCTGGCGG
NM_001083605.1:c.2970_2971insTGCTGATGCTGGCGG
NM_001083606.1:c.2970_2971insTGCTGATGCTGGCGG
NM_001083607.1:c.2970_2971insTGCTGATGCTGGCGG
XM_005252102.2:c.2970_2971insTGCTGATGCTGGCGG
XM_011518868.1:c.3267_3268insTGCTGATGCTGGCGG
XM_011518869.1:c.2970_2971insTGCTGATGCTGGCGG
XM_011518870.1:c.2970_2971insTGCTGATGCTGGCGG
XM_011518871.1:c.2970_2971insTGCTGATGCTGGCGG
XM_011518872.1:c.2970_2971insTGCTGATGCTGGCGG
XM_011518873.1:c.2583_2584insTGCTGATGCTGGCGG
XM_011518874.1:c.3423_3424insTGCTGATGCTGGCGG
NM_000264.4:c.3423_3424insTGCTGATGCTGGCGG
NM_001083602.2:c.3225_3226insTGCTGATGCTGGCGG
NM_001083603.2:c.3420_3421insTGCTGATGCTGGCGG
NM_001083604.2:c.2970_2971insTGCTGATGCTGGCGG
NM_001083605.2:c.2970_2971insTGCTGATGCTGGCGG
NM_001083606.2:c.2970_2971insTGCTGATGCTGGCGG
NM_001083607.2:c.2970_2971insTGCTGATGCTGGCGG
NM_001354918.1:c.3267_3268insTGCTGATGCTGGCGG
NR_149061.1:n.3445_3446insTGCTGATGCTGGCGG
NM_000264.5:c.3423_3424insTGCTGATGCTGGCGG
NM_001083606.3:c.2970_2971insTGCTGATGCTGGCGG
NM_001354918.2:c.3267_3268insTGCTGATGCTGGCGG
NR_149061.2:n.4162_4163insTGCTGATGCTGGCGG
NM_001083602.3:c.3225_3226insTGCTGATGCTGGCGG
NM_001083603.3:c.3420_3421insTGCTGATGCTGGCGG
NM_001083604.3:c.2970_2971insTGCTGATGCTGGCGG
NM_001083605.3:c.2970_2971insTGCTGATGCTGGCGG
NM_001083607.3:c.2970_2971insTGCTGATGCTGGCGG