Canonical Allele Identifier: CA2579388958

Gene: PTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95453508_95453509del , CM000671.2:g.95453508_95453509del	GRCh38
NC_000009.11:g.98215790_98215791del , CM000671.1:g.98215790_98215791del	GRCh37
NC_000009.10:g.97255611_97255612del	NCBI36
NG_007664.1:g.68457_68458del , LRG_515:g.68457_68458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.3220_3221del	ENSP00000518556.1:p.Leu1074GlyfsTer4
ENST00000437951.6:c.3415_3416del MANE Plus Clinical	ENSP00000389744.2:p.Leu1139GlyfsTer4
ENST00000690194.1:c.*1726_*1727del	ENSP00000509379.1:n.*1726_*1727del
ENST00000692981.1:c.2965_2966del	ENSP00000510238.1:p.Leu989GlyfsTer4
ENST00000693534.1:n.749_750del
ENST00000331920.11:c.3418_3419del MANE Select	ENSP00000332353.6:p.Leu1140GlyfsTer4
ENST00000331920.10:c.3418_3419del	ENSP00000332353.6:p.Leu1140GlyfsTer4
ENST00000375274.6:c.3415_3416del	ENSP00000364423.2:p.Leu1139GlyfsTer4
ENST00000375290.6:c.3187_3188del	ENSP00000364439.2:n.3187_3188del
ENST00000418258.5:c.2965_2966del	ENSP00000396135.1:p.Leu989GlyfsTer4
ENST00000421141.5:c.2965_2966del	ENSP00000399981.1:p.Leu989GlyfsTer4
ENST00000429896.6:c.2965_2966del	ENSP00000414823.2:p.Leu989GlyfsTer4
ENST00000430669.6:c.3220_3221del	ENSP00000410287.2:p.Leu1074GlyfsTer4
ENST00000437951.5:c.3220_3221del	ENSP00000389744.1:p.Leu1074GlyfsTer4
NM_000264.3:c.3418_3419del , LRG_515t1:c.3418_3419del	NP_000255.2:p.Leu1140GlyfsTer4
NM_001083602.1:c.3220_3221del , LRG_515t2:c.3220_3221del	NP_001077071.1:p.Leu1074GlyfsTer4
NM_001083603.1:c.3415_3416del	NP_001077072.1:p.Leu1139GlyfsTer4
NM_001083604.1:c.2965_2966del	NP_001077073.1:p.Leu989GlyfsTer4
NM_001083605.1:c.2965_2966del	NP_001077074.1:p.Leu989GlyfsTer4
NM_001083606.1:c.2965_2966del	NP_001077075.1:p.Leu989GlyfsTer4
NM_001083607.1:c.2965_2966del	NP_001077076.1:p.Leu989GlyfsTer4
XM_005252102.2:c.2965_2966del	XP_005252159.1:p.Leu989GlyfsTer4
XM_011518868.1:c.3262_3263del	XP_011517170.1:p.Leu1088GlyfsTer4
XM_011518869.1:c.2965_2966del	XP_011517171.1:p.Leu989GlyfsTer4
XM_011518870.1:c.2965_2966del	XP_011517172.1:p.Leu989GlyfsTer4
XM_011518871.1:c.2965_2966del	XP_011517173.1:p.Leu989GlyfsTer4
XM_011518872.1:c.2965_2966del	XP_011517174.1:p.Leu989GlyfsTer4
XM_011518873.1:c.2578_2579del	XP_011517175.1:p.Leu860GlyfsTer4
XM_011518874.1:c.3418_3419del	XP_011517176.1:p.Leu1140GlyfsTer4
NM_000264.4:c.3418_3419del	NP_000255.2:p.Leu1140GlyfsTer4
NM_001083602.2:c.3220_3221del	NP_001077071.1:p.Leu1074GlyfsTer4
NM_001083603.2:c.3415_3416del	NP_001077072.1:p.Leu1139GlyfsTer4
NM_001083604.2:c.2965_2966del	NP_001077073.1:p.Leu989GlyfsTer4
NM_001083605.2:c.2965_2966del	NP_001077074.1:p.Leu989GlyfsTer4
NM_001083606.2:c.2965_2966del	NP_001077075.1:p.Leu989GlyfsTer4
NM_001083607.2:c.2965_2966del	NP_001077076.1:p.Leu989GlyfsTer4
NM_001354918.1:c.3262_3263del	NP_001341847.1:p.Leu1088GlyfsTer4
NR_149061.1:n.3440_3441del
NM_000264.5:c.3418_3419del MANE Select	NP_000255.2:p.Leu1140GlyfsTer4
NM_001083606.3:c.2965_2966del	NP_001077075.1:p.Leu989GlyfsTer4
NM_001354918.2:c.3262_3263del	NP_001341847.1:p.Leu1088GlyfsTer4
NR_149061.2:n.4157_4158del
NM_001083602.3:c.3220_3221del	NP_001077071.1:p.Leu1074GlyfsTer4
NM_001083603.3:c.3415_3416del MANE Plus Clinical	NP_001077072.1:p.Leu1139GlyfsTer4
NM_001083604.3:c.2965_2966del	NP_001077073.1:p.Leu989GlyfsTer4
NM_001083605.3:c.2965_2966del	NP_001077074.1:p.Leu989GlyfsTer4
NM_001083607.3:c.2965_2966del	NP_001077076.1:p.Leu989GlyfsTer4