Canonical Allele Identifier: CA645567507

Gene: PTCH1

Linked Data

• COSMIC: COSM144233

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95478153_95478180dup , CM000671.2:g.95478153_95478180dup	GRCh38
NC_000009.11:g.98240435_98240462dup , CM000671.1:g.98240435_98240462dup	GRCh37
NC_000009.10:g.97280256_97280283dup	NCBI36
NG_007664.1:g.43786_43813dup , LRG_515:g.43786_43813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711046.1:c.1024_1051dup	ENSP00000518556.1:p.Gln351ProfsTer29
ENST00000437951.6:c.1219_1246dup MANE Plus Clinical	ENSP00000389744.2:p.Gln416ProfsTer29
ENST00000690194.1:c.769_796dup	ENSP00000509379.1:p.Gln266ProfsTer29
ENST00000692981.1:c.769_796dup	ENSP00000510238.1:p.Gln266ProfsTer29
ENST00000331920.11:c.1222_1249dup MANE Select	ENSP00000332353.6:p.Gln417ProfsTer29
ENST00000331920.10:c.1222_1249dup	ENSP00000332353.6:p.Gln417ProfsTer29
ENST00000375271.4:c.373_400dup	ENSP00000364420.4:p.Gln134ProfsTer29
ENST00000375274.6:c.1219_1246dup	ENSP00000364423.2:p.Gln416ProfsTer29
ENST00000375290.6:c.859_886dup	ENSP00000364439.2:p.Gln296ProfsTer29
ENST00000418258.5:c.769_796dup	ENSP00000396135.1:p.Gln266ProfsTer29
ENST00000421141.5:c.769_796dup	ENSP00000399981.1:p.Gln266ProfsTer29
ENST00000429896.6:c.769_796dup	ENSP00000414823.2:p.Gln266ProfsTer29
ENST00000430669.6:c.1024_1051dup	ENSP00000410287.2:p.Gln351ProfsTer29
ENST00000437951.5:c.1024_1051dup	ENSP00000389744.1:p.Gln351ProfsTer29
NM_000264.3:c.1222_1249dup , LRG_515t1:c.1222_1249dup	NP_000255.2:p.Gln417ProfsTer29
NM_001083602.1:c.1024_1051dup , LRG_515t2:c.1024_1051dup	NP_001077071.1:p.Gln351ProfsTer29
NM_001083603.1:c.1219_1246dup	NP_001077072.1:p.Gln416ProfsTer29
NM_001083604.1:c.769_796dup	NP_001077073.1:p.Gln266ProfsTer29
NM_001083605.1:c.769_796dup	NP_001077074.1:p.Gln266ProfsTer29
NM_001083606.1:c.769_796dup	NP_001077075.1:p.Gln266ProfsTer29
NM_001083607.1:c.769_796dup	NP_001077076.1:p.Gln266ProfsTer29
XM_005252102.2:c.769_796dup	XP_005252159.1:p.Gln266ProfsTer29
XM_011518868.1:c.1222_1249dup	XP_011517170.1:p.Gln417ProfsTer29
XM_011518869.1:c.769_796dup	XP_011517171.1:p.Gln266ProfsTer29
XM_011518870.1:c.769_796dup	XP_011517172.1:p.Gln266ProfsTer29
XM_011518871.1:c.769_796dup	XP_011517173.1:p.Gln266ProfsTer29
XM_011518872.1:c.769_796dup	XP_011517174.1:p.Gln266ProfsTer29
XM_011518873.1:c.382_409dup	XP_011517175.1:p.Gln137ProfsTer29
XM_011518874.1:c.1222_1249dup	XP_011517176.1:p.Gln417ProfsTer29
NM_000264.4:c.1222_1249dup	NP_000255.2:p.Gln417ProfsTer29
NM_001083602.2:c.1024_1051dup	NP_001077071.1:p.Gln351ProfsTer29
NM_001083603.2:c.1219_1246dup	NP_001077072.1:p.Gln416ProfsTer29
NM_001083604.2:c.769_796dup	NP_001077073.1:p.Gln266ProfsTer29
NM_001083605.2:c.769_796dup	NP_001077074.1:p.Gln266ProfsTer29
NM_001083606.2:c.769_796dup	NP_001077075.1:p.Gln266ProfsTer29
NM_001083607.2:c.769_796dup	NP_001077076.1:p.Gln266ProfsTer29
NM_001354918.1:c.1222_1249dup	NP_001341847.1:p.Gln417ProfsTer29
NR_149061.1:n.1410_1437dup
NM_000264.5:c.1222_1249dup MANE Select	NP_000255.2:p.Gln417ProfsTer29
NM_001083606.3:c.769_796dup	NP_001077075.1:p.Gln266ProfsTer29
NM_001354918.2:c.1222_1249dup	NP_001341847.1:p.Gln417ProfsTer29
NR_149061.2:n.2127_2154dup
NM_001083602.3:c.1024_1051dup	NP_001077071.1:p.Gln351ProfsTer29
NM_001083603.3:c.1219_1246dup MANE Plus Clinical	NP_001077072.1:p.Gln416ProfsTer29
NM_001083604.3:c.769_796dup	NP_001077073.1:p.Gln266ProfsTer29
NM_001083605.3:c.769_796dup	NP_001077074.1:p.Gln266ProfsTer29
NM_001083607.3:c.769_796dup	NP_001077076.1:p.Gln266ProfsTer29