Canonical Allele Identifier: CA16618349
Gene: POT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420174
dbSNP Id: rs1064794328

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124871020del , CM000669.2:g.124871020del GRCh38
NC_000007.13:g.124511074del , CM000669.1:g.124511074del GRCh37
NC_000007.12:g.124298310del NCBI36
NG_029232.1:g.63965del

Transcript Alleles

HGVS Amino-acid change
ENST00000357628.8:c.147del MANE Select ENSP00000350249.3:p.Ile49MetfsTer7
ENST00000429326.6:c.125-7379del ENSP00000403088.1:n.125-7379del
ENST00000430927.6:c.147del ENSP00000397632.2:p.Ile49MetfsTer7
ENST00000446993.6:c.-247del ENSP00000388921.2:n.-247del
ENST00000653241.1:c.147del ENSP00000499476.1:p.Ile49MetfsTer7
ENST00000653274.1:c.147del ENSP00000499382.1:p.Ile49MetfsTer7
ENST00000653819.1:c.125-7379del ENSP00000499533.1:n.125-7379del
ENST00000653892.1:c.125-7379del ENSP00000499506.1:n.125-7379del
ENST00000654766.1:c.147del ENSP00000499395.1:p.Ile49MetfsTer7
ENST00000655761.1:c.147del ENSP00000499635.1:p.Ile49MetfsTer7
ENST00000657333.1:c.125-7379del ENSP00000499425.1:n.125-7379del
ENST00000657892.1:c.125-5720del ENSP00000499524.1:n.125-5720del
ENST00000661898.1:c.147del ENSP00000499528.1:p.Ile49MetfsTer7
ENST00000662531.1:c.*42del ENSP00000499488.1:n.*42del
ENST00000664330.1:c.125-7379del ENSP00000499781.1:n.125-7379del
ENST00000664366.1:c.147del ENSP00000499290.1:p.Ile49MetfsTer7
ENST00000668382.1:c.147del ENSP00000499546.1:p.Ile49MetfsTer7
ENST00000357628.7:c.147del ENSP00000350249.3:p.Ile49MetfsTer7
ENST00000393329.5:c.-138-7379del ENSP00000377002.1:n.-138-7379del
ENST00000429326.5:c.125-7379del ENSP00000403088.1:n.125-7379del
ENST00000446993.5:c.147del ENSP00000388921.1:p.Ile49MetfsTer7
ENST00000607932.5:c.147del ENSP00000476506.1:p.Ile49MetfsTer7
ENST00000608057.5:c.147del ENSP00000476371.1:p.Ile49MetfsTer7
ENST00000609106.5:c.147del ENSP00000476981.1:p.Ile49MetfsTer7
ENST00000609702.5:c.147del ENSP00000477258.1:p.Ile49MetfsTer7
NM_001042594.1:c.-138-7379del NP_001036059.1:n.-138-7379del
NM_015450.2:c.147del NP_056265.2:p.Ile49MetfsTer7
NR_003102.1:n.748del
NR_003103.1:n.748del
NR_003104.1:n.748del
XM_006715917.2:c.147del XP_006715980.1:p.Ile49MetfsTer7
XM_011516006.1:c.-247del XP_011514308.1:n.-247del
XM_011516007.1:c.-247del XP_011514309.1:n.-247del
XM_006715917.4:c.147del XP_006715980.1:p.Ile49MetfsTer7
XM_017011942.2:c.-138-7379del XP_016867431.1:n.-138-7379del
XR_001744618.1:n.738del
XR_001744619.2:n.716-7379del
NM_015450.3:c.147del MANE Select NP_056265.2:p.Ile49MetfsTer7
NM_001042594.2:c.-138-7379del NP_001036059.1:n.-138-7379del
NR_003102.2:n.590del
NR_003103.2:n.590del
NR_003104.2:n.590del