Canonical Allele Identifier: CA2830546582

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95482186_95482187insCAG , CM000671.2:g.95482186_95482187insCAG	GRCh38
NC_000009.11:g.98244468_98244469insCAG , CM000671.1:g.98244468_98244469insCAG	GRCh37
NC_000009.10:g.97284289_97284290insCAG	NCBI36
NG_007664.1:g.39779_39780insCTG , LRG_515:g.39779_39780insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.403_404insCTG	ENSP00000518556.1:p.His135delinsProAsp
ENST00000437951.6:c.598_599insCTG MANE Plus Clinical	ENSP00000389744.2:p.His200delinsProAsp
ENST00000690194.1:c.148_149insCTG	ENSP00000509379.1:p.His50delinsProAsp
ENST00000692981.1:c.148_149insCTG	ENSP00000510238.1:p.His50delinsProAsp
ENST00000331920.11:c.601_602insCTG MANE Select	ENSP00000332353.6:p.His201delinsProAsp
ENST00000331920.10:c.601_602insCTG	ENSP00000332353.6:p.His201delinsProAsp
ENST00000375274.6:c.598_599insCTG	ENSP00000364423.2:p.His200delinsProAsp
ENST00000375290.6:c.384-1599_384-1598insCTG	ENSP00000364439.2:n.384-1599_384-1598insCTG
ENST00000418258.5:c.148_149insCTG	ENSP00000396135.1:p.His50delinsProAsp
ENST00000421141.5:c.148_149insCTG	ENSP00000399981.1:p.His50delinsProAsp
ENST00000429896.6:c.148_149insCTG	ENSP00000414823.2:p.His50delinsProAsp
ENST00000430669.6:c.403_404insCTG	ENSP00000410287.2:p.His135delinsProAsp
ENST00000437951.5:c.403_404insCTG	ENSP00000389744.1:p.His135delinsProAsp
ENST00000468211.6:c.403_404insCTG	ENSP00000449745.1:p.His135delinsProAsp
ENST00000546820.5:c.148_149insCTG	ENSP00000448843.1:p.His50delinsProAsp
ENST00000547672.5:c.148_149insCTG	ENSP00000447878.1:p.His50delinsProAsp
ENST00000548379.5:n.254_255insCTG
ENST00000548420.1:c.-94-1599_-94-1598insCTG	ENSP00000449078.1:n.-94-1599_-94-1598insCTG
ENST00000548945.6:n.194-1599_194-1598insCTG
ENST00000550136.1:n.2123_2124insCTG
ENST00000550914.6:c.183_184insCTG	ENSP00000450047.1:p.Asn61_Ile62insLeu
ENST00000551623.1:c.243_244insCTG	ENSP00000447242.1:n.243_244insCTG
ENST00000551630.1:c.148_149insCTG	ENSP00000450131.1:p.His50delinsProAsp
ENST00000551845.5:c.148_149insCTG	ENSP00000447008.1:p.His50delinsProAsp
ENST00000553011.5:c.148_149insCTG	ENSP00000447797.1:p.His50delinsProAsp
ENST00000553256.5:n.347_348insCTG
NM_000264.3:c.601_602insCTG , LRG_515t1:c.601_602insCTG	NP_000255.2:p.His201delinsProAsp
NM_001083602.1:c.403_404insCTG , LRG_515t2:c.403_404insCTG	NP_001077071.1:p.His135delinsProAsp
NM_001083603.1:c.598_599insCTG	NP_001077072.1:p.His200delinsProAsp
NM_001083604.1:c.148_149insCTG	NP_001077073.1:p.His50delinsProAsp
NM_001083605.1:c.148_149insCTG	NP_001077074.1:p.His50delinsProAsp
NM_001083606.1:c.148_149insCTG	NP_001077075.1:p.His50delinsProAsp
NM_001083607.1:c.148_149insCTG	NP_001077076.1:p.His50delinsProAsp
XM_005252102.2:c.148_149insCTG	XP_005252159.1:p.His50delinsProAsp
XM_011518868.1:c.601_602insCTG	XP_011517170.1:p.His201delinsProAsp
XM_011518869.1:c.148_149insCTG	XP_011517171.1:p.His50delinsProAsp
XM_011518870.1:c.148_149insCTG	XP_011517172.1:p.His50delinsProAsp
XM_011518871.1:c.148_149insCTG	XP_011517173.1:p.His50delinsProAsp
XM_011518872.1:c.148_149insCTG	XP_011517174.1:p.His50delinsProAsp
XM_011518873.1:c.-94-1599_-94-1598insCTG	XP_011517175.1:n.-94-1599_-94-1598insCTG
XM_011518874.1:c.601_602insCTG	XP_011517176.1:p.His201delinsProAsp
NM_000264.4:c.601_602insCTG	NP_000255.2:p.His201delinsProAsp
NM_001083602.2:c.403_404insCTG	NP_001077071.1:p.His135delinsProAsp
NM_001083603.2:c.598_599insCTG	NP_001077072.1:p.His200delinsProAsp
NM_001083604.2:c.148_149insCTG	NP_001077073.1:p.His50delinsProAsp
NM_001083605.2:c.148_149insCTG	NP_001077074.1:p.His50delinsProAsp
NM_001083606.2:c.148_149insCTG	NP_001077075.1:p.His50delinsProAsp
NM_001083607.2:c.148_149insCTG	NP_001077076.1:p.His50delinsProAsp
NM_001354918.1:c.601_602insCTG	NP_001341847.1:p.His201delinsProAsp
NM_001354919.1:c.403_404insCTG	NP_001341848.1:p.His135delinsProAsp
NR_149061.1:n.789_790insCTG
NM_000264.5:c.601_602insCTG MANE Select	NP_000255.2:p.His201delinsProAsp
NM_001083606.3:c.148_149insCTG	NP_001077075.1:p.His50delinsProAsp
NM_001354918.2:c.601_602insCTG	NP_001341847.1:p.His201delinsProAsp
NR_149061.2:n.1506_1507insCTG
NM_001083602.3:c.403_404insCTG	NP_001077071.1:p.His135delinsProAsp
NM_001083603.3:c.598_599insCTG MANE Plus Clinical	NP_001077072.1:p.His200delinsProAsp
NM_001083604.3:c.148_149insCTG	NP_001077073.1:p.His50delinsProAsp
NM_001083605.3:c.148_149insCTG	NP_001077074.1:p.His50delinsProAsp
NM_001083607.3:c.148_149insCTG	NP_001077076.1:p.His50delinsProAsp
NM_001354919.2:c.403_404insCTG	NP_001341848.1:p.His135delinsProAsp