Canonical Allele Identifier: CA457469453

Gene: POT1

Linked Data

• MyVariant Identifiers: chr7:g.124510980_124510981insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124870926_124870927insT , CM000669.2:g.124870926_124870927insT	GRCh38
NC_000007.13:g.124510980_124510981insT , CM000669.1:g.124510980_124510981insT	GRCh37
NC_000007.12:g.124298216_124298217insT	NCBI36
NG_029232.1:g.64057_64058insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000357628.8:c.239_240insA MANE Select	ENSP00000350249.3:p.Phe81LeufsTer10
ENST00000429326.6:c.125-7287_125-7286insA	ENSP00000403088.1:n.125-7287_125-7286insA...
ENST00000430927.6:c.239_240insA	ENSP00000397632.2:p.Phe81LeufsTer10
ENST00000446993.6:c.-155_-154insA	ENSP00000388921.2:n.-155_-154insA
ENST00000653241.1:c.239_240insA	ENSP00000499476.1:p.Phe81LeufsTer10
ENST00000653274.1:c.239_240insA	ENSP00000499382.1:p.Phe81LeufsTer10
ENST00000653819.1:c.125-7287_125-7286insA	ENSP00000499533.1:n.125-7287_125-7286insA...
ENST00000653892.1:c.125-7287_125-7286insA	ENSP00000499506.1:n.125-7287_125-7286insA...
ENST00000654766.1:c.239_240insA	ENSP00000499395.1:p.Phe81LeufsTer10
ENST00000655761.1:c.239_240insA	ENSP00000499635.1:p.Phe81LeufsTer10
ENST00000657333.1:c.125-7287_125-7286insA	ENSP00000499425.1:n.125-7287_125-7286insA...
ENST00000657892.1:c.125-5628_125-5627insA	ENSP00000499524.1:n.125-5628_125-5627insA...
ENST00000661898.1:c.239_240insA	ENSP00000499528.1:p.Phe81LeufsTer10
ENST00000662531.1:c.*134_*135insA	ENSP00000499488.1:n.*134_*135insA
ENST00000664330.1:c.125-7287_125-7286insA	ENSP00000499781.1:n.125-7287_125-7286insA...
ENST00000664366.1:c.239_240insA	ENSP00000499290.1:p.Phe81LeufsTer10
ENST00000668382.1:c.239_240insA	ENSP00000499546.1:p.Phe81LeufsTer10
ENST00000357628.7:c.239_240insA	ENSP00000350249.3:p.Phe81LeufsTer10
ENST00000393329.5:c.-138-7287_-138-7286insA	ENSP00000377002.1:n.-138-7287_-138-7286in...
ENST00000429326.5:c.125-7287_125-7286insA	ENSP00000403088.1:n.125-7287_125-7286insA...
ENST00000446993.5:c.239_240insA	ENSP00000388921.1:p.Phe81LeufsTer?
ENST00000607932.5:c.239_240insA	ENSP00000476506.1:p.Phe81LeufsTer10
ENST00000608057.5:c.239_240insA	ENSP00000476371.1:p.Phe81LeufsTer10
ENST00000609106.5:c.239_240insA	ENSP00000476981.1:p.Phe81LeufsTer10
NM_001042594.1:c.-138-7287_-138-7286insA	NP_001036059.1:n.-138-7287_-138-7286insA
NM_015450.2:c.239_240insA	NP_056265.2:p.Phe81LeufsTer10
NR_003102.1:n.840_841insA
NR_003103.1:n.840_841insA
NR_003104.1:n.840_841insA
XM_006715917.2:c.239_240insA	XP_006715980.1:p.Phe81LeufsTer10
XM_011516006.1:c.-155_-154insA	XP_011514308.1:n.-155_-154insA
XM_011516007.1:c.-155_-154insA	XP_011514309.1:n.-155_-154insA
XM_006715917.4:c.239_240insA	XP_006715980.1:p.Phe81LeufsTer10
XM_017011942.2:c.-138-7287_-138-7286insA	XP_016867431.1:n.-138-7287_-138-7286insA
XR_001744618.1:n.830_831insA
XR_001744619.2:n.716-7287_716-7286insA
NM_015450.3:c.239_240insA MANE Select	NP_056265.2:p.Phe81LeufsTer10
NM_001042594.2:c.-138-7287_-138-7286insA	NP_001036059.1:n.-138-7287_-138-7286insA
NR_003102.2:n.682_683insA
NR_003103.2:n.682_683insA
NR_003104.2:n.682_683insA