Canonical Allele Identifier: CA2573144874

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 1433486
• ClinVar RCV Id: RCV001960109
• dbSNP Id: rs2136631061

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453507del , CM000671.2:g.95453507del	GRCh38
NC_000009.11:g.98215789del , CM000671.1:g.98215789del	GRCh37
NC_000009.10:g.97255610del	NCBI36
NG_007664.1:g.68460del , LRG_515:g.68460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3223del	ENSP00000518556.1:p.Ala1075ArgfsTer?
ENST00000437951.6:c.3418del MANE Plus Clinical	ENSP00000389744.2:p.Ala1140ArgfsTer?
ENST00000690194.1:c.*1729del	ENSP00000509379.1:n.*1729del
ENST00000692981.1:c.2968del	ENSP00000510238.1:p.Ala990ArgfsTer?
ENST00000693534.1:n.752del
ENST00000331920.11:c.3421del MANE Select	ENSP00000332353.6:p.Ala1141ArgfsTer?
ENST00000331920.10:c.3421del	ENSP00000332353.6:p.Ala1141ArgfsTer?
ENST00000375274.6:c.3418del	ENSP00000364423.2:p.Ala1140ArgfsTer?
ENST00000375290.6:c.3190del	ENSP00000364439.2:n.3190del
ENST00000418258.5:c.2968del	ENSP00000396135.1:p.Ala990ArgfsTer?
ENST00000421141.5:c.2968del	ENSP00000399981.1:p.Ala990ArgfsTer?
ENST00000429896.6:c.2968del	ENSP00000414823.2:p.Ala990ArgfsTer?
ENST00000430669.6:c.3223del	ENSP00000410287.2:p.Ala1075ArgfsTer?
ENST00000437951.5:c.3223del	ENSP00000389744.1:p.Ala1075ArgfsTer?
NM_000264.3:c.3421del , LRG_515t1:c.3421del	NP_000255.2:p.Ala1141ArgfsTer?
NM_001083602.1:c.3223del , LRG_515t2:c.3223del	NP_001077071.1:p.Ala1075ArgfsTer?
NM_001083603.1:c.3418del	NP_001077072.1:p.Ala1140ArgfsTer?
NM_001083604.1:c.2968del	NP_001077073.1:p.Ala990ArgfsTer?
NM_001083605.1:c.2968del	NP_001077074.1:p.Ala990ArgfsTer?
NM_001083606.1:c.2968del	NP_001077075.1:p.Ala990ArgfsTer?
NM_001083607.1:c.2968del	NP_001077076.1:p.Ala990ArgfsTer?
XM_005252102.2:c.2968del	XP_005252159.1:p.Ala990ArgfsTer?
XM_011518868.1:c.3265del	XP_011517170.1:p.Ala1089ArgfsTer?
XM_011518869.1:c.2968del	XP_011517171.1:p.Ala990ArgfsTer?
XM_011518870.1:c.2968del	XP_011517172.1:p.Ala990ArgfsTer?
XM_011518871.1:c.2968del	XP_011517173.1:p.Ala990ArgfsTer?
XM_011518872.1:c.2968del	XP_011517174.1:p.Ala990ArgfsTer?
XM_011518873.1:c.2581del	XP_011517175.1:p.Ala861ArgfsTer?
XM_011518874.1:c.3421del	XP_011517176.1:p.Ala1141ArgfsTer?
NM_000264.4:c.3421del	NP_000255.2:p.Ala1141ArgfsTer?
NM_001083602.2:c.3223del	NP_001077071.1:p.Ala1075ArgfsTer?
NM_001083603.2:c.3418del	NP_001077072.1:p.Ala1140ArgfsTer?
NM_001083604.2:c.2968del	NP_001077073.1:p.Ala990ArgfsTer?
NM_001083605.2:c.2968del	NP_001077074.1:p.Ala990ArgfsTer?
NM_001083606.2:c.2968del	NP_001077075.1:p.Ala990ArgfsTer?
NM_001083607.2:c.2968del	NP_001077076.1:p.Ala990ArgfsTer?
NM_001354918.1:c.3265del	NP_001341847.1:p.Ala1089ArgfsTer?
NR_149061.1:n.3443del
NM_000264.5:c.3421del MANE Select	NP_000255.2:p.Ala1141ArgfsTer?
NM_001083606.3:c.2968del	NP_001077075.1:p.Ala990ArgfsTer?
NM_001354918.2:c.3265del	NP_001341847.1:p.Ala1089ArgfsTer?
NR_149061.2:n.4160del
NM_001083602.3:c.3223del	NP_001077071.1:p.Ala1075ArgfsTer?
NM_001083603.3:c.3418del MANE Plus Clinical	NP_001077072.1:p.Ala1140ArgfsTer?
NM_001083604.3:c.2968del	NP_001077073.1:p.Ala990ArgfsTer?
NM_001083605.3:c.2968del	NP_001077074.1:p.Ala990ArgfsTer?
NM_001083607.3:c.2968del	NP_001077076.1:p.Ala990ArgfsTer?