Canonical Allele Identifier: CA9135709
Community Standard Title: NM_000208.4(INSR):c.1988C>T (p.Ala663Val)
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7163073G>A , CM000681.2:g.7163073G>A GRCh38
NC_000019.9:g.7163084G>A , CM000681.1:g.7163084G>A GRCh37
NC_000019.8:g.7114084G>A NCBI36
NG_008852.2:g.135928C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.1988C>T MANE Select NP_000199.2:p.Ala663Val
ENST00000302850.10:c.1988C>T MANE Select ENSP00000303830.4:p.Ala663Val
NM_000208.2:c.1988C>T NP_000199.2:p.Ala663Val
NM_000208.3:c.1988C>T NP_000199.2:p.Ala663Val
NM_001079817.1:c.1988C>T NP_001073285.1:p.Ala663Val
NM_001079817.2:c.1988C>T NP_001073285.1:p.Ala663Val
NM_001079817.3:c.1988C>T NP_001073285.1:p.Ala663Val
ENST00000302850.9:c.1988C>T ENSP00000303830.4:p.Ala663Val
ENST00000341500.9:c.1988C>T ENSP00000342838.4:p.Ala663Val
ENST00000598216.1:n.1963C>T
ENST00000600492.1:c.389C>T ENSP00000473170.1:p.Ala130Val
XM_011527988.1:c.2066C>T XP_011526290.1:p.Ala689Val
XM_011527988.2:c.1988C>T XP_011526290.2:p.Ala663Val
XM_011527989.1:c.2066C>T XP_011526291.1:p.Ala689Val
XM_011527989.3:c.1988C>T XP_011526291.2:p.Ala663Val