Canonical Allele Identifier: CA2580080914

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 1750140
• ClinVar RCV Id: RCV002353407

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482199_95482204del , CM000671.2:g.95482199_95482204del	GRCh38
NC_000009.11:g.98244481_98244486del , CM000671.1:g.98244481_98244486del	GRCh37
NC_000009.10:g.97284302_97284307del	NCBI36
NG_007664.1:g.39764_39769del , LRG_515:g.39764_39769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.388_393del
ENST00000437951.6:c.583_588del
ENST00000690194.1:c.133_138del
ENST00000692981.1:c.133_138del
ENST00000331920.11:c.586_591del
ENST00000331920.10:c.586_591del
ENST00000375274.6:c.583_588del
ENST00000375290.6:c.384-1614_384-1609del	ENSP00000364439.2:n.384-1614_384-1609del
ENST00000418258.5:c.133_138del
ENST00000421141.5:c.133_138del
ENST00000429896.6:c.133_138del
ENST00000430669.6:c.388_393del
ENST00000437951.5:c.388_393del
ENST00000468211.6:c.388_393del
ENST00000546820.5:c.133_138del
ENST00000547672.5:c.133_138del
ENST00000548379.5:n.239_244del
ENST00000548420.1:c.-94-1614_-94-1609del	ENSP00000449078.1:n.-94-1614_-94-1609del
ENST00000548945.6:n.194-1614_194-1609del
ENST00000550136.1:n.2108_2113del
ENST00000550914.6:c.168_173del	ENSP00000450047.1:p.Ser57_Gly58del
ENST00000551623.1:c.228_233del
ENST00000551630.1:c.133_138del
ENST00000551845.5:c.133_138del
ENST00000553011.5:c.133_138del
ENST00000553256.5:n.332_337del
NM_000264.3:c.586_591del , LRG_515t1:c.586_591del
NM_001083602.1:c.388_393del , LRG_515t2:c.388_393del
NM_001083603.1:c.583_588del
NM_001083604.1:c.133_138del
NM_001083605.1:c.133_138del
NM_001083606.1:c.133_138del
NM_001083607.1:c.133_138del
XM_005252102.2:c.133_138del
XM_011518868.1:c.586_591del
XM_011518869.1:c.133_138del
XM_011518870.1:c.133_138del
XM_011518871.1:c.133_138del
XM_011518872.1:c.133_138del
XM_011518873.1:c.-94-1614_-94-1609del	XP_011517175.1:n.-94-1614_-94-1609del
XM_011518874.1:c.586_591del
NM_000264.4:c.586_591del
NM_001083602.2:c.388_393del
NM_001083603.2:c.583_588del
NM_001083604.2:c.133_138del
NM_001083605.2:c.133_138del
NM_001083606.2:c.133_138del
NM_001083607.2:c.133_138del
NM_001354918.1:c.586_591del
NM_001354919.1:c.388_393del
NR_149061.1:n.774_779del
NM_000264.5:c.586_591del
NM_001083606.3:c.133_138del
NM_001354918.2:c.586_591del
NR_149061.2:n.1491_1496del
NM_001083602.3:c.388_393del
NM_001083603.3:c.583_588del
NM_001083604.3:c.133_138del
NM_001083605.3:c.133_138del
NM_001083607.3:c.133_138del
NM_001354919.2:c.388_393del