Canonical Allele Identifier: CA2580081039

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 1750077
• ClinVar RCV Id: RCV002353344

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482204_95482220del , CM000671.2:g.95482204_95482220del	GRCh38
NC_000009.11:g.98244486_98244502del , CM000671.1:g.98244486_98244502del	GRCh37
NC_000009.10:g.97284307_97284323del	NCBI36
NG_007664.1:g.39748_39764del , LRG_515:g.39748_39764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.387-15_388del
ENST00000437951.6:c.582-15_583del
ENST00000690194.1:c.132-15_133del
ENST00000692981.1:c.132-15_133del
ENST00000331920.11:c.585-15_586del
ENST00000331920.10:c.585-15_586del
ENST00000375274.6:c.582-15_583del
ENST00000375290.6:c.384-1630_384-1614del	ENSP00000364439.2:n.384-1630_384-1614del
ENST00000418258.5:c.132-15_133del
ENST00000421141.5:c.132-15_133del
ENST00000429896.6:c.132-15_133del
ENST00000430669.6:c.387-15_388del
ENST00000437951.5:c.387-15_388del
ENST00000468211.6:c.387-15_388del
ENST00000546820.5:c.132-15_133del
ENST00000547672.5:c.132-15_133del
ENST00000548379.5:n.238-15_239del
ENST00000548420.1:c.-94-1630_-94-1614del	ENSP00000449078.1:n.-94-1630_-94-1614del
ENST00000548945.6:n.194-1630_194-1614del
ENST00000550136.1:n.2092_2108del
ENST00000550914.6:c.152_168del	ENSP00000450047.1:p.Leu51GlnfsTer?
ENST00000551623.1:c.227-15_228del
ENST00000551630.1:c.132-15_133del
ENST00000551845.5:c.132-15_133del
ENST00000553011.5:c.132-15_133del
ENST00000553256.5:n.331-15_332del
NM_000264.3:c.585-15_586del , LRG_515t1:c.585-15_586del
NM_001083602.1:c.387-15_388del , LRG_515t2:c.387-15_388del
NM_001083603.1:c.582-15_583del
NM_001083604.1:c.132-15_133del
NM_001083605.1:c.132-15_133del
NM_001083606.1:c.132-15_133del
NM_001083607.1:c.132-15_133del
XM_005252102.2:c.132-15_133del
XM_011518868.1:c.585-15_586del
XM_011518869.1:c.132-15_133del
XM_011518870.1:c.132-15_133del
XM_011518871.1:c.132-15_133del
XM_011518872.1:c.132-15_133del
XM_011518873.1:c.-94-1630_-94-1614del	XP_011517175.1:n.-94-1630_-94-1614del
XM_011518874.1:c.585-15_586del
NM_000264.4:c.585-15_586del
NM_001083602.2:c.387-15_388del
NM_001083603.2:c.582-15_583del
NM_001083604.2:c.132-15_133del
NM_001083605.2:c.132-15_133del
NM_001083606.2:c.132-15_133del
NM_001083607.2:c.132-15_133del
NM_001354918.1:c.585-15_586del
NM_001354919.1:c.387-15_388del
NR_149061.1:n.773-15_774del
NM_000264.5:c.585-15_586del
NM_001083606.3:c.132-15_133del
NM_001354918.2:c.585-15_586del
NR_149061.2:n.1490-15_1491del
NM_001083602.3:c.387-15_388del
NM_001083603.3:c.582-15_583del
NM_001083604.3:c.132-15_133del
NM_001083605.3:c.132-15_133del
NM_001083607.3:c.132-15_133del
NM_001354919.2:c.387-15_388del