Canonical Allele Identifier: CA658797251
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 523402
ClinVar RCV Id: RCV000626745
dbSNP Id: rs1554710890

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95516715del , CM000671.2:g.95516715del GRCh38
NC_000009.11:g.98278997del , CM000671.1:g.98278997del GRCh37
NC_000009.10:g.97318818del NCBI36
NG_007664.1:g.5254del , LRG_515:g.5254del

Transcript Alleles

HGVS Amino-acid change
ENST00000711046.1:c.-241del ENSP00000518556.1:n.-241del
ENST00000437951.6:c.109del MANE Plus Clinical ENSP00000389744.2:p.Cys37ValfsTer?
ENST00000375274.6:c.109del ENSP00000364423.2:p.Cys37ValfsTer?
ENST00000430669.6:c.-241del ENSP00000410287.2:n.-241del
ENST00000437951.5:c.-241del ENSP00000389744.1:n.-241del
ENST00000468211.6:c.-241del ENSP00000449745.1:n.-241del
NM_001083602.1:c.-241del , LRG_515t2:c.-241del NP_001077071.1:n.-241del
NM_001083603.1:c.109del NP_001077072.1:p.Cys37ValfsTer?
NM_001083602.2:c.-241del NP_001077071.1:n.-241del
NM_001083603.2:c.109del NP_001077072.1:p.Cys37ValfsTer?
NM_001354919.1:c.-241del NP_001341848.1:n.-241del
NM_001083602.3:c.-241del NP_001077071.1:n.-241del
NM_001083603.3:c.109del MANE Plus Clinical NP_001077072.1:p.Cys37ValfsTer?
NM_001354919.2:c.-241del NP_001341848.1:n.-241del