Canonical Allele Identifier: CA2695210931
Gene: PTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95479008dup , CM000671.2:g.95479008dup GRCh38
NC_000009.11:g.98241290dup , CM000671.1:g.98241290dup GRCh37
NC_000009.10:g.97281111dup NCBI36
NG_007664.1:g.42958dup , LRG_515:g.42958dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000711046.1:c.1009dup ENSP00000518556.1:p.Tyr337LeufsTer?
ENST00000437951.6:c.1204dup MANE Plus Clinical ENSP00000389744.2:p.Tyr402LeufsTer?
ENST00000690194.1:c.754dup ENSP00000509379.1:p.Tyr252LeufsTer?
ENST00000692981.1:c.754dup ENSP00000510238.1:p.Tyr252LeufsTer?
ENST00000331920.11:c.1207dup MANE Select ENSP00000332353.6:p.Tyr403LeufsTer?
ENST00000331920.10:c.1207dup ENSP00000332353.6:p.Tyr403LeufsTer?
ENST00000375271.4:c.358dup ENSP00000364420.4:p.Tyr120LeufsTer?
ENST00000375274.6:c.1204dup ENSP00000364423.2:p.Tyr402LeufsTer?
ENST00000375290.6:c.844dup ENSP00000364439.2:p.Tyr282LeufsTer?
ENST00000418258.5:c.754dup ENSP00000396135.1:p.Tyr252LeufsTer?
ENST00000421141.5:c.754dup ENSP00000399981.1:p.Tyr252LeufsTer?
ENST00000429896.6:c.754dup ENSP00000414823.2:p.Tyr252LeufsTer?
ENST00000430669.6:c.1009dup ENSP00000410287.2:p.Tyr337LeufsTer?
ENST00000437951.5:c.1009dup ENSP00000389744.1:p.Tyr337LeufsTer?
NM_000264.3:c.1207dup , LRG_515t1:c.1207dup NP_000255.2:p.Tyr403LeufsTer?
NM_001083602.1:c.1009dup , LRG_515t2:c.1009dup NP_001077071.1:p.Tyr337LeufsTer?
NM_001083603.1:c.1204dup NP_001077072.1:p.Tyr402LeufsTer?
NM_001083604.1:c.754dup NP_001077073.1:p.Tyr252LeufsTer?
NM_001083605.1:c.754dup NP_001077074.1:p.Tyr252LeufsTer?
NM_001083606.1:c.754dup NP_001077075.1:p.Tyr252LeufsTer?
NM_001083607.1:c.754dup NP_001077076.1:p.Tyr252LeufsTer?
XM_005252102.2:c.754dup XP_005252159.1:p.Tyr252LeufsTer?
XM_011518868.1:c.1207dup XP_011517170.1:p.Tyr403LeufsTer?
XM_011518869.1:c.754dup XP_011517171.1:p.Tyr252LeufsTer?
XM_011518870.1:c.754dup XP_011517172.1:p.Tyr252LeufsTer?
XM_011518871.1:c.754dup XP_011517173.1:p.Tyr252LeufsTer?
XM_011518872.1:c.754dup XP_011517174.1:p.Tyr252LeufsTer?
XM_011518873.1:c.367dup XP_011517175.1:p.Tyr123LeufsTer?
XM_011518874.1:c.1207dup XP_011517176.1:p.Tyr403LeufsTer?
NM_000264.4:c.1207dup NP_000255.2:p.Tyr403LeufsTer?
NM_001083602.2:c.1009dup NP_001077071.1:p.Tyr337LeufsTer?
NM_001083603.2:c.1204dup NP_001077072.1:p.Tyr402LeufsTer?
NM_001083604.2:c.754dup NP_001077073.1:p.Tyr252LeufsTer?
NM_001083605.2:c.754dup NP_001077074.1:p.Tyr252LeufsTer?
NM_001083606.2:c.754dup NP_001077075.1:p.Tyr252LeufsTer?
NM_001083607.2:c.754dup NP_001077076.1:p.Tyr252LeufsTer?
NM_001354918.1:c.1207dup NP_001341847.1:p.Tyr403LeufsTer?
NR_149061.1:n.1395dup
NM_000264.5:c.1207dup MANE Select NP_000255.2:p.Tyr403LeufsTer?
NM_001083606.3:c.754dup NP_001077075.1:p.Tyr252LeufsTer?
NM_001354918.2:c.1207dup NP_001341847.1:p.Tyr403LeufsTer?
NR_149061.2:n.2112dup
NM_001083602.3:c.1009dup NP_001077071.1:p.Tyr337LeufsTer?
NM_001083603.3:c.1204dup MANE Plus Clinical NP_001077072.1:p.Tyr402LeufsTer?
NM_001083604.3:c.754dup NP_001077073.1:p.Tyr252LeufsTer?
NM_001083605.3:c.754dup NP_001077074.1:p.Tyr252LeufsTer?
NM_001083607.3:c.754dup NP_001077076.1:p.Tyr252LeufsTer?