Canonical Allele Identifier: CA2573053210

Gene: PTCH1

Linked Data

• ClinVar Variation Id: 1341686
• ClinVar RCV Id: RCV001837175
• dbSNP Id: rs2118472215

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482139_95482142dup , CM000671.2:g.95482139_95482142dup	GRCh38
NC_000009.11:g.98244421_98244424dup , CM000671.1:g.98244421_98244424dup	GRCh37
NC_000009.10:g.97284242_97284245dup	NCBI36
NG_007664.1:g.39826_39829dup , LRG_515:g.39826_39829dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.450_453dup	ENSP00000518556.1:p.Gln152GlyfsTer?
ENST00000437951.6:c.645_648dup MANE Plus Clinical	ENSP00000389744.2:p.Gln217GlyfsTer?
ENST00000690194.1:c.195_198dup	ENSP00000509379.1:p.Gln67GlyfsTer?
ENST00000692981.1:c.195_198dup	ENSP00000510238.1:p.Gln67GlyfsTer?
ENST00000331920.11:c.648_651dup MANE Select	ENSP00000332353.6:p.Gln218GlyfsTer?
ENST00000331920.10:c.648_651dup	ENSP00000332353.6:p.Gln218GlyfsTer?
ENST00000375274.6:c.645_648dup	ENSP00000364423.2:p.Gln217GlyfsTer?
ENST00000375290.6:c.384-1552_384-1549dup	ENSP00000364439.2:n.384-1552_384-1549dup
ENST00000418258.5:c.195_198dup	ENSP00000396135.1:p.Gln67GlyfsTer?
ENST00000421141.5:c.195_198dup	ENSP00000399981.1:p.Gln67GlyfsTer?
ENST00000429896.6:c.195_198dup	ENSP00000414823.2:p.Gln67GlyfsTer?
ENST00000430669.6:c.450_453dup	ENSP00000410287.2:p.Gln152GlyfsTer?
ENST00000437951.5:c.450_453dup	ENSP00000389744.1:p.Gln152GlyfsTer?
ENST00000468211.6:c.450_453dup	ENSP00000449745.1:p.Gln152GlyfsTer?
ENST00000546820.5:c.195_198dup	ENSP00000448843.1:p.Gln67GlyfsTer?
ENST00000547672.5:c.195_198dup	ENSP00000447878.1:p.Gln67GlyfsTer?
ENST00000548379.5:n.301_304dup
ENST00000548420.1:c.-94-1552_-94-1549dup	ENSP00000449078.1:n.-94-1552_-94-1549dup
ENST00000548945.6:n.194-1552_194-1549dup
ENST00000550136.1:n.2170_2173dup
ENST00000550914.6:c.230_233dup	ENSP00000450047.1:p.Ile78MetfsTer?
ENST00000551623.1:c.290_293dup	ENSP00000447242.1:n.290_293dup
ENST00000551630.1:c.195_198dup	ENSP00000450131.1:p.Gln67GlyfsTer?
ENST00000551845.5:c.195_198dup	ENSP00000447008.1:p.Gln67GlyfsTer?
ENST00000553011.5:c.195_198dup	ENSP00000447797.1:p.Gln67GlyfsTer?
ENST00000553256.5:n.394_397dup
NM_000264.3:c.648_651dup , LRG_515t1:c.648_651dup	NP_000255.2:p.Gln218GlyfsTer?
NM_001083602.1:c.450_453dup , LRG_515t2:c.450_453dup	NP_001077071.1:p.Gln152GlyfsTer?
NM_001083603.1:c.645_648dup	NP_001077072.1:p.Gln217GlyfsTer?
NM_001083604.1:c.195_198dup	NP_001077073.1:p.Gln67GlyfsTer?
NM_001083605.1:c.195_198dup	NP_001077074.1:p.Gln67GlyfsTer?
NM_001083606.1:c.195_198dup	NP_001077075.1:p.Gln67GlyfsTer?
NM_001083607.1:c.195_198dup	NP_001077076.1:p.Gln67GlyfsTer?
XM_005252102.2:c.195_198dup	XP_005252159.1:p.Gln67GlyfsTer?
XM_011518868.1:c.648_651dup	XP_011517170.1:p.Gln218GlyfsTer?
XM_011518869.1:c.195_198dup	XP_011517171.1:p.Gln67GlyfsTer?
XM_011518870.1:c.195_198dup	XP_011517172.1:p.Gln67GlyfsTer?
XM_011518871.1:c.195_198dup	XP_011517173.1:p.Gln67GlyfsTer?
XM_011518872.1:c.195_198dup	XP_011517174.1:p.Gln67GlyfsTer?
XM_011518873.1:c.-94-1552_-94-1549dup	XP_011517175.1:n.-94-1552_-94-1549dup
XM_011518874.1:c.648_651dup	XP_011517176.1:p.Gln218GlyfsTer?
NM_000264.4:c.648_651dup	NP_000255.2:p.Gln218GlyfsTer?
NM_001083602.2:c.450_453dup	NP_001077071.1:p.Gln152GlyfsTer?
NM_001083603.2:c.645_648dup	NP_001077072.1:p.Gln217GlyfsTer?
NM_001083604.2:c.195_198dup	NP_001077073.1:p.Gln67GlyfsTer?
NM_001083605.2:c.195_198dup	NP_001077074.1:p.Gln67GlyfsTer?
NM_001083606.2:c.195_198dup	NP_001077075.1:p.Gln67GlyfsTer?
NM_001083607.2:c.195_198dup	NP_001077076.1:p.Gln67GlyfsTer?
NM_001354918.1:c.648_651dup	NP_001341847.1:p.Gln218GlyfsTer?
NM_001354919.1:c.450_453dup	NP_001341848.1:p.Gln152GlyfsTer?
NR_149061.1:n.836_839dup
NM_000264.5:c.648_651dup MANE Select	NP_000255.2:p.Gln218GlyfsTer?
NM_001083606.3:c.195_198dup	NP_001077075.1:p.Gln67GlyfsTer?
NM_001354918.2:c.648_651dup	NP_001341847.1:p.Gln218GlyfsTer?
NR_149061.2:n.1553_1556dup
NM_001083602.3:c.450_453dup	NP_001077071.1:p.Gln152GlyfsTer?
NM_001083603.3:c.645_648dup MANE Plus Clinical	NP_001077072.1:p.Gln217GlyfsTer?
NM_001083604.3:c.195_198dup	NP_001077073.1:p.Gln67GlyfsTer?
NM_001083605.3:c.195_198dup	NP_001077074.1:p.Gln67GlyfsTer?
NM_001083607.3:c.195_198dup	NP_001077076.1:p.Gln67GlyfsTer?
NM_001354919.2:c.450_453dup	NP_001341848.1:p.Gln152GlyfsTer?