Canonical Allele Identifier: CA2720249109

Gene: PTCH1

Linked Data

• dbSNP Id: rs2118451107

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95481625_95481644del , CM000671.2:g.95481625_95481644del	GRCh38
NC_000009.11:g.98243907_98243926del , CM000671.1:g.98243907_98243926del	GRCh37
NC_000009.10:g.97283728_97283747del	NCBI36
NG_007664.1:g.40323_40342del , LRG_515:g.40323_40342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.548+306_548+325del	ENSP00000518556.1:n.548+306_548+325del
ENST00000437951.6:c.743+306_743+325del MANE Plus Clinical	ENSP00000389744.2:n.743+306_743+325del
ENST00000690194.1:c.293+306_293+325del	ENSP00000509379.1:n.293+306_293+325del
ENST00000692981.1:c.293+306_293+325del	ENSP00000510238.1:n.293+306_293+325del
ENST00000331920.11:c.746+306_746+325del MANE Select	ENSP00000332353.6:n.746+306_746+325del
ENST00000331920.10:c.746+306_746+325del	ENSP00000332353.6:n.746+306_746+325del
ENST00000375274.6:c.743+306_743+325del	ENSP00000364423.2:n.743+306_743+325del
ENST00000375290.6:c.384-1055_384-1036del	ENSP00000364439.2:n.384-1055_384-1036del
ENST00000418258.5:c.293+306_293+325del	ENSP00000396135.1:n.293+306_293+325del
ENST00000421141.5:c.293+306_293+325del	ENSP00000399981.1:n.293+306_293+325del
ENST00000429896.6:c.293+306_293+325del	ENSP00000414823.2:n.293+306_293+325del
ENST00000430669.6:c.548+306_548+325del	ENSP00000410287.2:n.548+306_548+325del
ENST00000437951.5:c.548+306_548+325del	ENSP00000389744.1:n.548+306_548+325del
ENST00000546820.5:c.293+306_293+325del	ENSP00000448843.1:n.293+306_293+325del
ENST00000547672.5:c.293+306_293+325del	ENSP00000447878.1:n.293+306_293+325del
ENST00000548379.5:n.399+306_399+325del
ENST00000548420.1:c.-94-1055_-94-1036del	ENSP00000449078.1:n.-94-1055_-94-1036del
ENST00000548945.6:n.194-1055_194-1036del
ENST00000550914.6:c.*88+306_*88+325del	ENSP00000450047.1:n.*88+306_*88+325del
ENST00000551845.5:c.293+306_293+325del	ENSP00000447008.1:n.293+306_293+325del
ENST00000553011.5:c.293+306_293+325del	ENSP00000447797.1:n.293+306_293+325del
ENST00000553256.5:n.492+306_492+325del
NM_000264.3:c.746+306_746+325del , LRG_515t1:c.746+306_746+325del	NP_000255.2:n.746+306_746+325del
NM_001083602.1:c.548+306_548+325del , LRG_515t2:c.548+306_548+325del	NP_001077071.1:n.548+306_548+325del
NM_001083603.1:c.743+306_743+325del	NP_001077072.1:n.743+306_743+325del
NM_001083604.1:c.293+306_293+325del	NP_001077073.1:n.293+306_293+325del
NM_001083605.1:c.293+306_293+325del	NP_001077074.1:n.293+306_293+325del
NM_001083606.1:c.293+306_293+325del	NP_001077075.1:n.293+306_293+325del
NM_001083607.1:c.293+306_293+325del	NP_001077076.1:n.293+306_293+325del
XM_005252102.2:c.293+306_293+325del	XP_005252159.1:n.293+306_293+325del
XM_011518868.1:c.746+306_746+325del	XP_011517170.1:n.746+306_746+325del
XM_011518869.1:c.293+306_293+325del	XP_011517171.1:n.293+306_293+325del
XM_011518870.1:c.293+306_293+325del	XP_011517172.1:n.293+306_293+325del
XM_011518871.1:c.293+306_293+325del	XP_011517173.1:n.293+306_293+325del
XM_011518872.1:c.293+306_293+325del	XP_011517174.1:n.293+306_293+325del
XM_011518873.1:c.-94-1055_-94-1036del	XP_011517175.1:n.-94-1055_-94-1036del
XM_011518874.1:c.746+306_746+325del	XP_011517176.1:n.746+306_746+325del
NM_000264.4:c.746+306_746+325del	NP_000255.2:n.746+306_746+325del
NM_001083602.2:c.548+306_548+325del	NP_001077071.1:n.548+306_548+325del
NM_001083603.2:c.743+306_743+325del	NP_001077072.1:n.743+306_743+325del
NM_001083604.2:c.293+306_293+325del	NP_001077073.1:n.293+306_293+325del
NM_001083605.2:c.293+306_293+325del	NP_001077074.1:n.293+306_293+325del
NM_001083606.2:c.293+306_293+325del	NP_001077075.1:n.293+306_293+325del
NM_001083607.2:c.293+306_293+325del	NP_001077076.1:n.293+306_293+325del
NM_001354918.1:c.746+306_746+325del	NP_001341847.1:n.746+306_746+325del
NR_149061.1:n.934+306_934+325del
NM_000264.5:c.746+306_746+325del MANE Select	NP_000255.2:n.746+306_746+325del
NM_001083606.3:c.293+306_293+325del	NP_001077075.1:n.293+306_293+325del
NM_001354918.2:c.746+306_746+325del	NP_001341847.1:n.746+306_746+325del
NR_149061.2:n.1651+306_1651+325del
NM_001083602.3:c.548+306_548+325del	NP_001077071.1:n.548+306_548+325del
NM_001083603.3:c.743+306_743+325del MANE Plus Clinical	NP_001077072.1:n.743+306_743+325del
NM_001083604.3:c.293+306_293+325del	NP_001077073.1:n.293+306_293+325del
NM_001083605.3:c.293+306_293+325del	NP_001077074.1:n.293+306_293+325del
NM_001083607.3:c.293+306_293+325del	NP_001077076.1:n.293+306_293+325del