Canonical Allele Identifier: CA505217694
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1420062986
gnomAD v2: 19-7132325-G-A
gnomAD v4: 19-7132314-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132314G>A , CM000681.2:g.7132314G>A GRCh38
NC_000019.9:g.7132325G>A , CM000681.1:g.7132325G>A GRCh37
NC_000019.8:g.7083325G>A NCBI36
NG_008852.2:g.166687C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2686C>T MANE Select ENSP00000303830.4:p.Leu896=
ENST00000302850.9:c.2686C>T ENSP00000303830.4:p.Leu896=
ENST00000341500.9:c.2650C>T ENSP00000342838.4:p.Leu884=
NM_000208.2:c.2686C>T NP_000199.2:p.Leu896=
NM_000208.3:c.2686C>T NP_000199.2:p.Leu896=
NM_001079817.1:c.2650C>T NP_001073285.1:p.Leu884=
NM_001079817.2:c.2650C>T NP_001073285.1:p.Leu884=
XM_011527988.1:c.2764C>T XP_011526290.1:p.Leu922=
XM_011527989.1:c.2728C>T XP_011526291.1:p.Leu910=
XM_011527988.2:c.2686C>T XP_011526290.2:p.Leu896=
XM_011527989.3:c.2650C>T XP_011526291.2:p.Leu884=
NM_000208.4:c.2686C>T MANE Select NP_000199.2:p.Leu896=
NM_001079817.3:c.2650C>T NP_001073285.1:p.Leu884=