Canonical Allele Identifier: CA1865583482

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453429_95453435delinsCCAATCA , CM000671.2:g.95453429_95453435delinsCCAATCA	GRCh38
NC_000009.11:g.98215711_98215717delinsCCAATCA , CM000671.1:g.98215711_98215717delinsCCAATCA	GRCh37
NC_000009.10:g.97255532_97255538delinsCCAATCA	NCBI36
NG_007664.1:g.68531_68537delinsTGATTGG , LRG_515:g.68531_68537delinsTGATTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3251+43_3251+49delinsTGATTGG	ENSP00000518556.1:n.3251+43_3251+49delinsTGATTGG
ENST00000437951.6:c.3446+43_3446+49delinsTGATTGG MANE Plus Clinical	ENSP00000389744.2:n.3446+43_3446+49delinsTGATTGG
ENST00000690194.1:c.*1757+43_*1757+49delinsTGATTGG	ENSP00000509379.1:n.*1757+43_*1757+49delinsTGATTGG
ENST00000692981.1:c.2996+43_2996+49delinsTGATTGG	ENSP00000510238.1:n.2996+43_2996+49delinsTGATTGG
ENST00000693534.1:n.780+43_780+49delinsTGATTGG
ENST00000331920.11:c.3449+43_3449+49delinsTGATTGG MANE Select	ENSP00000332353.6:n.3449+43_3449+49delinsTGATTGG
ENST00000331920.10:c.3449+43_3449+49delinsTGATTGG	ENSP00000332353.6:n.3449+43_3449+49delinsTGATTGG
ENST00000375274.6:c.3446+43_3446+49delinsTGATTGG	ENSP00000364423.2:n.3446+43_3446+49delinsTGATTGG
ENST00000375290.6:c.3261_3267delinsTGATTGG	ENSP00000364439.2:n.3261_3267delinsTGATTGG
ENST00000418258.5:c.2996+43_2996+49delinsTGATTGG	ENSP00000396135.1:n.2996+43_2996+49delinsTGATTGG
ENST00000421141.5:c.2996+43_2996+49delinsTGATTGG	ENSP00000399981.1:n.2996+43_2996+49delinsTGATTGG
ENST00000429896.6:c.2996+43_2996+49delinsTGATTGG	ENSP00000414823.2:n.2996+43_2996+49delinsTGATTGG
ENST00000430669.6:c.3251+43_3251+49delinsTGATTGG	ENSP00000410287.2:n.3251+43_3251+49delinsTGATTGG
ENST00000437951.5:c.3251+43_3251+49delinsTGATTGG	ENSP00000389744.1:n.3251+43_3251+49delinsTGATTGG
NM_000264.3:c.3449+43_3449+49delinsTGATTGG , LRG_515t1:c.3449+43_3449+49delinsTGATTGG	NP_000255.2:n.3449+43_3449+49delinsTGATTGG
NM_001083602.1:c.3251+43_3251+49delinsTGATTGG , LRG_515t2:c.3251+43_3251+49delinsTGATTGG	NP_001077071.1:n.3251+43_3251+49delinsTGATTGG
NM_001083603.1:c.3446+43_3446+49delinsTGATTGG	NP_001077072.1:n.3446+43_3446+49delinsTGATTGG
NM_001083604.1:c.2996+43_2996+49delinsTGATTGG	NP_001077073.1:n.2996+43_2996+49delinsTGATTGG
NM_001083605.1:c.2996+43_2996+49delinsTGATTGG	NP_001077074.1:n.2996+43_2996+49delinsTGATTGG
NM_001083606.1:c.2996+43_2996+49delinsTGATTGG	NP_001077075.1:n.2996+43_2996+49delinsTGATTGG
NM_001083607.1:c.2996+43_2996+49delinsTGATTGG	NP_001077076.1:n.2996+43_2996+49delinsTGATTGG
XM_005252102.2:c.2996+43_2996+49delinsTGATTGG	XP_005252159.1:n.2996+43_2996+49delinsTGATTGG
XM_011518868.1:c.3293+43_3293+49delinsTGATTGG	XP_011517170.1:n.3293+43_3293+49delinsTGATTGG
XM_011518869.1:c.2996+43_2996+49delinsTGATTGG	XP_011517171.1:n.2996+43_2996+49delinsTGATTGG
XM_011518870.1:c.2996+43_2996+49delinsTGATTGG	XP_011517172.1:n.2996+43_2996+49delinsTGATTGG
XM_011518871.1:c.2996+43_2996+49delinsTGATTGG	XP_011517173.1:n.2996+43_2996+49delinsTGATTGG
XM_011518872.1:c.2996+43_2996+49delinsTGATTGG	XP_011517174.1:n.2996+43_2996+49delinsTGATTGG
XM_011518873.1:c.2609+43_2609+49delinsTGATTGG	XP_011517175.1:n.2609+43_2609+49delinsTGATTGG
XM_011518874.1:c.3449+43_3449+49delinsTGATTGG	XP_011517176.1:n.3449+43_3449+49delinsTGATTGG
NM_000264.4:c.3449+43_3449+49delinsTGATTGG	NP_000255.2:n.3449+43_3449+49delinsTGATTGG
NM_001083602.2:c.3251+43_3251+49delinsTGATTGG	NP_001077071.1:n.3251+43_3251+49delinsTGATTGG
NM_001083603.2:c.3446+43_3446+49delinsTGATTGG	NP_001077072.1:n.3446+43_3446+49delinsTGATTGG
NM_001083604.2:c.2996+43_2996+49delinsTGATTGG	NP_001077073.1:n.2996+43_2996+49delinsTGATTGG
NM_001083605.2:c.2996+43_2996+49delinsTGATTGG	NP_001077074.1:n.2996+43_2996+49delinsTGATTGG
NM_001083606.2:c.2996+43_2996+49delinsTGATTGG	NP_001077075.1:n.2996+43_2996+49delinsTGATTGG
NM_001083607.2:c.2996+43_2996+49delinsTGATTGG	NP_001077076.1:n.2996+43_2996+49delinsTGATTGG
NM_001354918.1:c.3293+43_3293+49delinsTGATTGG	NP_001341847.1:n.3293+43_3293+49delinsTGATTGG
NR_149061.1:n.3471+43_3471+49delinsTGATTGG
NM_000264.5:c.3449+43_3449+49delinsTGATTGG MANE Select	NP_000255.2:n.3449+43_3449+49delinsTGATTGG
NM_001083606.3:c.2996+43_2996+49delinsTGATTGG	NP_001077075.1:n.2996+43_2996+49delinsTGATTGG
NM_001354918.2:c.3293+43_3293+49delinsTGATTGG	NP_001341847.1:n.3293+43_3293+49delinsTGATTGG
NR_149061.2:n.4188+43_4188+49delinsTGATTGG
NM_001083602.3:c.3251+43_3251+49delinsTGATTGG	NP_001077071.1:n.3251+43_3251+49delinsTGATTGG
NM_001083603.3:c.3446+43_3446+49delinsTGATTGG MANE Plus Clinical	NP_001077072.1:n.3446+43_3446+49delinsTGATTGG
NM_001083604.3:c.2996+43_2996+49delinsTGATTGG	NP_001077073.1:n.2996+43_2996+49delinsTGATTGG
NM_001083605.3:c.2996+43_2996+49delinsTGATTGG	NP_001077074.1:n.2996+43_2996+49delinsTGATTGG
NM_001083607.3:c.2996+43_2996+49delinsTGATTGG	NP_001077076.1:n.2996+43_2996+49delinsTGATTGG