Canonical Allele Identifier: CA1740757100

Gene: POT1

Linked Data

• dbSNP Id: rs1796251676

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124886748_124886749del , CM000669.2:g.124886748_124886749del	GRCh38
NC_000007.13:g.124526802_124526803del , CM000669.1:g.124526802_124526803del	GRCh37
NC_000007.12:g.124314038_124314039del	NCBI36
NG_029232.1:g.48236_48237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.124+5518_124+5519del MANE Select	ENSP00000350249.3:n.124+5518_124+5519del
ENST00000429326.6:c.124+5518_124+5519del	ENSP00000403088.1:n.124+5518_124+5519del
ENST00000430927.6:c.124+5518_124+5519del	ENSP00000397632.2:n.124+5518_124+5519del
ENST00000446993.6:c.-270+5518_-270+5519del	ENSP00000388921.2:n.-270+5518_-270+5519del
ENST00000653241.1:c.124+5518_124+5519del	ENSP00000499476.1:n.124+5518_124+5519del
ENST00000653274.1:c.124+5518_124+5519del	ENSP00000499382.1:n.124+5518_124+5519del
ENST00000653819.1:c.124+5518_124+5519del	ENSP00000499533.1:n.124+5518_124+5519del
ENST00000653892.1:c.124+5518_124+5519del	ENSP00000499506.1:n.124+5518_124+5519del
ENST00000654766.1:c.124+5518_124+5519del	ENSP00000499395.1:n.124+5518_124+5519del
ENST00000655761.1:c.124+5518_124+5519del	ENSP00000499635.1:n.124+5518_124+5519del
ENST00000657333.1:c.124+5518_124+5519del	ENSP00000499425.1:n.124+5518_124+5519del
ENST00000657892.1:c.124+5518_124+5519del	ENSP00000499524.1:n.124+5518_124+5519del
ENST00000661898.1:c.124+5518_124+5519del	ENSP00000499528.1:n.124+5518_124+5519del
ENST00000662531.1:c.125-4282_125-4281del	ENSP00000499488.1:n.125-4282_125-4281del
ENST00000664330.1:c.124+5518_124+5519del	ENSP00000499781.1:n.124+5518_124+5519del
ENST00000664366.1:c.124+5518_124+5519del	ENSP00000499290.1:n.124+5518_124+5519del
ENST00000668382.1:c.124+5518_124+5519del	ENSP00000499546.1:n.124+5518_124+5519del
ENST00000669195.1:n.577+5518_577+5519del
ENST00000357628.7:c.124+5518_124+5519del	ENSP00000350249.3:n.124+5518_124+5519del
ENST00000393329.5:c.-139+5518_-139+5519del	ENSP00000377002.1:n.-139+5518_-139+5519del
ENST00000429326.5:c.124+5518_124+5519del	ENSP00000403088.1:n.124+5518_124+5519del
ENST00000446993.5:c.124+5518_124+5519del	ENSP00000388921.1:n.124+5518_124+5519del
ENST00000607932.5:c.124+5518_124+5519del	ENSP00000476506.1:n.124+5518_124+5519del
ENST00000608057.5:c.124+5518_124+5519del	ENSP00000476371.1:n.124+5518_124+5519del
ENST00000609106.5:c.124+5518_124+5519del	ENSP00000476981.1:n.124+5518_124+5519del
ENST00000609702.5:c.124+5518_124+5519del	ENSP00000477258.1:n.124+5518_124+5519del
NM_001042594.1:c.-139+5518_-139+5519del	NP_001036059.1:n.-139+5518_-139+5519del
NM_015450.2:c.124+5518_124+5519del	NP_056265.2:n.124+5518_124+5519del
NR_003102.1:n.725+5518_725+5519del
NR_003103.1:n.725+5518_725+5519del
NR_003104.1:n.725+5518_725+5519del
XM_006715917.2:c.124+5518_124+5519del	XP_006715980.1:n.124+5518_124+5519del
XM_011516006.1:c.-270+5518_-270+5519del	XP_011514308.1:n.-270+5518_-270+5519del
XM_011516007.1:c.-270+5518_-270+5519del	XP_011514309.1:n.-270+5518_-270+5519del
XM_006715917.4:c.124+5518_124+5519del	XP_006715980.1:n.124+5518_124+5519del
XM_017011942.2:c.-139+5518_-139+5519del	XP_016867431.1:n.-139+5518_-139+5519del
XR_001744618.1:n.715+5518_715+5519del
XR_001744619.2:n.715+5518_715+5519del
NM_015450.3:c.124+5518_124+5519del MANE Select	NP_056265.2:n.124+5518_124+5519del
NM_001042594.2:c.-139+5518_-139+5519del	NP_001036059.1:n.-139+5518_-139+5519del
NR_003102.2:n.567+5518_567+5519del
NR_003103.2:n.567+5518_567+5519del
NR_003104.2:n.567+5518_567+5519del