Canonical Allele Identifier: CA2173102624
Gene: TGM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252804_43252805delinsCG , CM000677.2:g.43252804_43252805delinsCG GRCh38
NC_000015.9:g.43545002_43545003delinsCG , CM000677.1:g.43545002_43545003delinsCG GRCh37
NC_000015.8:g.41332294_41332295delinsCG NCBI36
NG_016124.1:g.19053_19054delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.816_817delinsCG MANE Select ENSP00000220420.5:p.Pro272=
ENST00000635871.1:n.285_286delinsCG
ENST00000220420.9:c.816_817delinsCG ENSP00000220420.5:p.Pro272=
ENST00000349114.8:c.570_571delinsCG ENSP00000220419.8:p.Pro190=
ENST00000610827.4:c.813_814delinsCG ENSP00000479732.1:p.Pro271=
ENST00000611276.4:c.567_568delinsCG ENSP00000482542.1:p.Pro189=
ENST00000622115.1:c.819_820delinsCG ENSP00000479638.1:p.Pro273=
NM_004245.3:c.570_571delinsCG NP_004236.1:p.Pro190=
NM_201631.3:c.816_817delinsCG NP_963925.2:p.Pro272=
XM_011522229.1:c.816_817delinsCG XP_011520531.1:p.Pro272=
XR_931948.1:n.990_991delinsCG
NM_004245.4:c.570_571delinsCG NP_004236.1:p.Pro190=
NM_201631.4:c.816_817delinsCG MANE Select NP_963925.2:p.Pro272=