Canonical Allele Identifier: CA16612863
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409199
ClinVar RCV Id: RCV000475074
dbSNP Id: rs1060502295

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95478094del , CM000671.2:g.95478094del GRCh38
NC_000009.11:g.98240376del , CM000671.1:g.98240376del GRCh37
NC_000009.10:g.97280197del NCBI36
NG_007664.1:g.43872del , LRG_515:g.43872del

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.1110del ENSP00000518556.1:p.Asp370GlufsTer20
ENST00000437951.6:c.1305del MANE Plus Clinical ENSP00000389744.2:p.Asp435GlufsTer20
ENST00000690194.1:c.855del ENSP00000509379.1:p.Asp285GlufsTer20
ENST00000692981.1:c.855del ENSP00000510238.1:p.Asp285GlufsTer20
ENST00000331920.11:c.1308del MANE Select ENSP00000332353.6:p.Asp436GlufsTer20
ENST00000331920.10:c.1308del ENSP00000332353.6:p.Asp436GlufsTer20
ENST00000375271.4:c.459del ENSP00000364420.4:p.Asp153GlufsTer?
ENST00000375274.6:c.1305del ENSP00000364423.2:p.Asp435GlufsTer20
ENST00000375290.6:c.945del ENSP00000364439.2:p.Asp315GlufsTer20
ENST00000418258.5:c.855del ENSP00000396135.1:p.Asp285GlufsTer20
ENST00000421141.5:c.855del ENSP00000399981.1:p.Asp285GlufsTer20
ENST00000429896.6:c.855del ENSP00000414823.2:p.Asp285GlufsTer20
ENST00000430669.6:c.1110del ENSP00000410287.2:p.Asp370GlufsTer20
ENST00000437951.5:c.1110del ENSP00000389744.1:p.Asp370GlufsTer20
NM_000264.3:c.1308del , LRG_515t1:c.1308del NP_000255.2:p.Asp436GlufsTer20
NM_001083602.1:c.1110del , LRG_515t2:c.1110del NP_001077071.1:p.Asp370GlufsTer20
NM_001083603.1:c.1305del NP_001077072.1:p.Asp435GlufsTer20
NM_001083604.1:c.855del NP_001077073.1:p.Asp285GlufsTer20
NM_001083605.1:c.855del NP_001077074.1:p.Asp285GlufsTer20
NM_001083606.1:c.855del NP_001077075.1:p.Asp285GlufsTer20
NM_001083607.1:c.855del NP_001077076.1:p.Asp285GlufsTer20
XM_005252102.2:c.855del XP_005252159.1:p.Asp285GlufsTer20
XM_011518868.1:c.1308del XP_011517170.1:p.Asp436GlufsTer?
XM_011518869.1:c.855del XP_011517171.1:p.Asp285GlufsTer20
XM_011518870.1:c.855del XP_011517172.1:p.Asp285GlufsTer20
XM_011518871.1:c.855del XP_011517173.1:p.Asp285GlufsTer20
XM_011518872.1:c.855del XP_011517174.1:p.Asp285GlufsTer20
XM_011518873.1:c.468del XP_011517175.1:p.Asp156GlufsTer20
XM_011518874.1:c.1308del XP_011517176.1:p.Asp436GlufsTer20
NM_000264.4:c.1308del NP_000255.2:p.Asp436GlufsTer20
NM_001083602.2:c.1110del NP_001077071.1:p.Asp370GlufsTer20
NM_001083603.2:c.1305del NP_001077072.1:p.Asp435GlufsTer20
NM_001083604.2:c.855del NP_001077073.1:p.Asp285GlufsTer20
NM_001083605.2:c.855del NP_001077074.1:p.Asp285GlufsTer20
NM_001083606.2:c.855del NP_001077075.1:p.Asp285GlufsTer20
NM_001083607.2:c.855del NP_001077076.1:p.Asp285GlufsTer20
NM_001354918.1:c.1308del NP_001341847.1:p.Asp436GlufsTer?
NR_149061.1:n.1496del
NM_000264.5:c.1308del MANE Select NP_000255.2:p.Asp436GlufsTer20
NM_001083606.3:c.855del NP_001077075.1:p.Asp285GlufsTer20
NM_001354918.2:c.1308del NP_001341847.1:p.Asp436GlufsTer?
NR_149061.2:n.2213del
NM_001083602.3:c.1110del NP_001077071.1:p.Asp370GlufsTer20
NM_001083603.3:c.1305del MANE Plus Clinical NP_001077072.1:p.Asp435GlufsTer20
NM_001083604.3:c.855del NP_001077073.1:p.Asp285GlufsTer20
NM_001083605.3:c.855del NP_001077074.1:p.Asp285GlufsTer20
NM_001083607.3:c.855del NP_001077076.1:p.Asp285GlufsTer20