Canonical Allele Identifier: CA16612846
Gene: PTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1060502292

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95468806_95468807del , CM000671.2:g.95468806_95468807del GRCh38
NC_000009.11:g.98231088_98231089del , CM000671.1:g.98231088_98231089del GRCh37
NC_000009.10:g.97270909_97270910del NCBI36
NG_007664.1:g.53162_53163del , LRG_515:g.53162_53163del

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.1999_2000del ENSP00000518556.1:p.Ser667IlefsTer4
ENST00000437951.6:c.2194_2195del MANE Plus Clinical ENSP00000389744.2:p.Ser732IlefsTer4
ENST00000690194.1:c.*505_*506del ENSP00000509379.1:n.*505_*506del
ENST00000692981.1:c.1744_1745del ENSP00000510238.1:p.Ser582IlefsTer4
ENST00000331920.11:c.2197_2198del MANE Select ENSP00000332353.6:p.Ser733IlefsTer4
ENST00000331920.10:c.2197_2198del ENSP00000332353.6:p.Ser733IlefsTer4
ENST00000375274.6:c.2194_2195del ENSP00000364423.2:p.Ser732IlefsTer4
ENST00000375290.6:c.1966_1967del ENSP00000364439.2:n.1966_1967del
ENST00000418258.5:c.1744_1745del ENSP00000396135.1:p.Ser582IlefsTer4
ENST00000421141.5:c.1744_1745del ENSP00000399981.1:p.Ser582IlefsTer4
ENST00000429896.6:c.1744_1745del ENSP00000414823.2:p.Ser582IlefsTer4
ENST00000430669.6:c.1999_2000del ENSP00000410287.2:p.Ser667IlefsTer4
ENST00000437951.5:c.1999_2000del ENSP00000389744.1:p.Ser667IlefsTer4
ENST00000549678.1:n.386_387del
NM_000264.3:c.2197_2198del , LRG_515t1:c.2197_2198del NP_000255.2:p.Ser733IlefsTer4
NM_001083602.1:c.1999_2000del , LRG_515t2:c.1999_2000del NP_001077071.1:p.Ser667IlefsTer4
NM_001083603.1:c.2194_2195del NP_001077072.1:p.Ser732IlefsTer4
NM_001083604.1:c.1744_1745del NP_001077073.1:p.Ser582IlefsTer4
NM_001083605.1:c.1744_1745del NP_001077074.1:p.Ser582IlefsTer4
NM_001083606.1:c.1744_1745del NP_001077075.1:p.Ser582IlefsTer4
NM_001083607.1:c.1744_1745del NP_001077076.1:p.Ser582IlefsTer4
NR_038982.1:n.744_745del
XM_005252102.2:c.1744_1745del XP_005252159.1:p.Ser582IlefsTer4
XM_011518868.1:c.2041_2042del XP_011517170.1:p.Ser681IlefsTer4
XM_011518869.1:c.1744_1745del XP_011517171.1:p.Ser582IlefsTer4
XM_011518870.1:c.1744_1745del XP_011517172.1:p.Ser582IlefsTer4
XM_011518871.1:c.1744_1745del XP_011517173.1:p.Ser582IlefsTer4
XM_011518872.1:c.1744_1745del XP_011517174.1:p.Ser582IlefsTer4
XM_011518873.1:c.1357_1358del XP_011517175.1:p.Ser453IlefsTer4
XM_011518874.1:c.2197_2198del XP_011517176.1:p.Ser733IlefsTer4
NM_000264.4:c.2197_2198del NP_000255.2:p.Ser733IlefsTer4
NM_001083602.2:c.1999_2000del NP_001077071.1:p.Ser667IlefsTer4
NM_001083603.2:c.2194_2195del NP_001077072.1:p.Ser732IlefsTer4
NM_001083604.2:c.1744_1745del NP_001077073.1:p.Ser582IlefsTer4
NM_001083605.2:c.1744_1745del NP_001077074.1:p.Ser582IlefsTer4
NM_001083606.2:c.1744_1745del NP_001077075.1:p.Ser582IlefsTer4
NM_001083607.2:c.1744_1745del NP_001077076.1:p.Ser582IlefsTer4
NM_001354918.1:c.2041_2042del NP_001341847.1:p.Ser681IlefsTer4
NR_149061.1:n.2385_2386del
NM_000264.5:c.2197_2198del MANE Select NP_000255.2:p.Ser733IlefsTer4
NM_001083606.3:c.1744_1745del NP_001077075.1:p.Ser582IlefsTer4
NM_001354918.2:c.2041_2042del NP_001341847.1:p.Ser681IlefsTer4
NR_149061.2:n.3102_3103del
NM_001083602.3:c.1999_2000del NP_001077071.1:p.Ser667IlefsTer4
NM_001083603.3:c.2194_2195del MANE Plus Clinical NP_001077072.1:p.Ser732IlefsTer4
NM_001083604.3:c.1744_1745del NP_001077073.1:p.Ser582IlefsTer4
NM_001083605.3:c.1744_1745del NP_001077074.1:p.Ser582IlefsTer4
NM_001083607.3:c.1744_1745del NP_001077076.1:p.Ser582IlefsTer4