Canonical Allele Identifier: CA1865611547

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95481624_95481630delinsAATGCCT , CM000671.2:g.95481624_95481630delinsAATGCCT	GRCh38
NC_000009.11:g.98243906_98243912delinsAATGCCT , CM000671.1:g.98243906_98243912delinsAATGCCT	GRCh37
NC_000009.10:g.97283727_97283733delinsAATGCCT	NCBI36
NG_007664.1:g.40336_40342delinsAGGCATT , LRG_515:g.40336_40342delinsAGGCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.548+319_548+325delinsAGGCATT	ENSP00000518556.1:n.548+319_548+325delinsAGGCATT
ENST00000437951.6:c.743+319_743+325delinsAGGCATT MANE Plus Clinical	ENSP00000389744.2:n.743+319_743+325delinsAGGCATT
ENST00000690194.1:c.293+319_293+325delinsAGGCATT	ENSP00000509379.1:n.293+319_293+325delinsAGGCATT
ENST00000692981.1:c.293+319_293+325delinsAGGCATT	ENSP00000510238.1:n.293+319_293+325delinsAGGCATT
ENST00000331920.11:c.746+319_746+325delinsAGGCATT MANE Select	ENSP00000332353.6:n.746+319_746+325delinsAGGCATT
ENST00000331920.10:c.746+319_746+325delinsAGGCATT	ENSP00000332353.6:n.746+319_746+325delinsAGGCATT
ENST00000375274.6:c.743+319_743+325delinsAGGCATT	ENSP00000364423.2:n.743+319_743+325delinsAGGCATT
ENST00000375290.6:c.384-1042_384-1036delinsAGGCATT	ENSP00000364439.2:n.384-1042_384-1036delinsAGGCATT
ENST00000418258.5:c.293+319_293+325delinsAGGCATT	ENSP00000396135.1:n.293+319_293+325delinsAGGCATT
ENST00000421141.5:c.293+319_293+325delinsAGGCATT	ENSP00000399981.1:n.293+319_293+325delinsAGGCATT
ENST00000429896.6:c.293+319_293+325delinsAGGCATT	ENSP00000414823.2:n.293+319_293+325delinsAGGCATT
ENST00000430669.6:c.548+319_548+325delinsAGGCATT	ENSP00000410287.2:n.548+319_548+325delinsAGGCATT
ENST00000437951.5:c.548+319_548+325delinsAGGCATT	ENSP00000389744.1:n.548+319_548+325delinsAGGCATT
ENST00000546820.5:c.293+319_293+325delinsAGGCATT	ENSP00000448843.1:n.293+319_293+325delinsAGGCATT
ENST00000547672.5:c.293+319_293+325delinsAGGCATT	ENSP00000447878.1:n.293+319_293+325delinsAGGCATT
ENST00000548379.5:n.399+319_399+325delinsAGGCATT
ENST00000548420.1:c.-94-1042_-94-1036delinsAGGCATT	ENSP00000449078.1:n.-94-1042_-94-1036delinsAGGCATT
ENST00000548945.6:n.194-1042_194-1036delinsAGGCATT
ENST00000550914.6:c.*88+319_*88+325delinsAGGCATT	ENSP00000450047.1:n.*88+319_*88+325delinsAGGCATT
ENST00000551845.5:c.293+319_293+325delinsAGGCATT	ENSP00000447008.1:n.293+319_293+325delinsAGGCATT
ENST00000553011.5:c.293+319_293+325delinsAGGCATT	ENSP00000447797.1:n.293+319_293+325delinsAGGCATT
ENST00000553256.5:n.492+319_492+325delinsAGGCATT
NM_000264.3:c.746+319_746+325delinsAGGCATT , LRG_515t1:c.746+319_746+325delinsAGGCATT	NP_000255.2:n.746+319_746+325delinsAGGCATT
NM_001083602.1:c.548+319_548+325delinsAGGCATT , LRG_515t2:c.548+319_548+325delinsAGGCATT	NP_001077071.1:n.548+319_548+325delinsAGGCATT
NM_001083603.1:c.743+319_743+325delinsAGGCATT	NP_001077072.1:n.743+319_743+325delinsAGGCATT
NM_001083604.1:c.293+319_293+325delinsAGGCATT	NP_001077073.1:n.293+319_293+325delinsAGGCATT
NM_001083605.1:c.293+319_293+325delinsAGGCATT	NP_001077074.1:n.293+319_293+325delinsAGGCATT
NM_001083606.1:c.293+319_293+325delinsAGGCATT	NP_001077075.1:n.293+319_293+325delinsAGGCATT
NM_001083607.1:c.293+319_293+325delinsAGGCATT	NP_001077076.1:n.293+319_293+325delinsAGGCATT
XM_005252102.2:c.293+319_293+325delinsAGGCATT	XP_005252159.1:n.293+319_293+325delinsAGGCATT
XM_011518868.1:c.746+319_746+325delinsAGGCATT	XP_011517170.1:n.746+319_746+325delinsAGGCATT
XM_011518869.1:c.293+319_293+325delinsAGGCATT	XP_011517171.1:n.293+319_293+325delinsAGGCATT
XM_011518870.1:c.293+319_293+325delinsAGGCATT	XP_011517172.1:n.293+319_293+325delinsAGGCATT
XM_011518871.1:c.293+319_293+325delinsAGGCATT	XP_011517173.1:n.293+319_293+325delinsAGGCATT
XM_011518872.1:c.293+319_293+325delinsAGGCATT	XP_011517174.1:n.293+319_293+325delinsAGGCATT
XM_011518873.1:c.-94-1042_-94-1036delinsAGGCATT	XP_011517175.1:n.-94-1042_-94-1036delinsAGGCATT
XM_011518874.1:c.746+319_746+325delinsAGGCATT	XP_011517176.1:n.746+319_746+325delinsAGGCATT
NM_000264.4:c.746+319_746+325delinsAGGCATT	NP_000255.2:n.746+319_746+325delinsAGGCATT
NM_001083602.2:c.548+319_548+325delinsAGGCATT	NP_001077071.1:n.548+319_548+325delinsAGGCATT
NM_001083603.2:c.743+319_743+325delinsAGGCATT	NP_001077072.1:n.743+319_743+325delinsAGGCATT
NM_001083604.2:c.293+319_293+325delinsAGGCATT	NP_001077073.1:n.293+319_293+325delinsAGGCATT
NM_001083605.2:c.293+319_293+325delinsAGGCATT	NP_001077074.1:n.293+319_293+325delinsAGGCATT
NM_001083606.2:c.293+319_293+325delinsAGGCATT	NP_001077075.1:n.293+319_293+325delinsAGGCATT
NM_001083607.2:c.293+319_293+325delinsAGGCATT	NP_001077076.1:n.293+319_293+325delinsAGGCATT
NM_001354918.1:c.746+319_746+325delinsAGGCATT	NP_001341847.1:n.746+319_746+325delinsAGGCATT
NR_149061.1:n.934+319_934+325delinsAGGCATT
NM_000264.5:c.746+319_746+325delinsAGGCATT MANE Select	NP_000255.2:n.746+319_746+325delinsAGGCATT
NM_001083606.3:c.293+319_293+325delinsAGGCATT	NP_001077075.1:n.293+319_293+325delinsAGGCATT
NM_001354918.2:c.746+319_746+325delinsAGGCATT	NP_001341847.1:n.746+319_746+325delinsAGGCATT
NR_149061.2:n.1651+319_1651+325delinsAGGCATT
NM_001083602.3:c.548+319_548+325delinsAGGCATT	NP_001077071.1:n.548+319_548+325delinsAGGCATT
NM_001083603.3:c.743+319_743+325delinsAGGCATT MANE Plus Clinical	NP_001077072.1:n.743+319_743+325delinsAGGCATT
NM_001083604.3:c.293+319_293+325delinsAGGCATT	NP_001077073.1:n.293+319_293+325delinsAGGCATT
NM_001083605.3:c.293+319_293+325delinsAGGCATT	NP_001077074.1:n.293+319_293+325delinsAGGCATT
NM_001083607.3:c.293+319_293+325delinsAGGCATT	NP_001077076.1:n.293+319_293+325delinsAGGCATT