Canonical Allele Identifier: CA403671189
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125388-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125388C>A , CM000681.2:g.7125388C>A GRCh38
NC_000019.9:g.7125399C>A , CM000681.1:g.7125399C>A GRCh37
NC_000019.8:g.7076399C>A NCBI36
NG_008852.2:g.173613G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3153G>T MANE Select ENSP00000303830.4:p.Glu1051Asp
ENST00000302850.9:c.3153G>T ENSP00000303830.4:p.Glu1051Asp
ENST00000341500.9:c.3117G>T ENSP00000342838.4:p.Glu1039Asp
NM_000208.2:c.3153G>T NP_000199.2:p.Glu1051Asp
NM_000208.3:c.3153G>T NP_000199.2:p.Glu1051Asp
NM_001079817.1:c.3117G>T NP_001073285.1:p.Glu1039Asp
NM_001079817.2:c.3117G>T NP_001073285.1:p.Glu1039Asp
XM_011527988.1:c.3228G>T XP_011526290.1:p.Glu1076Asp
XM_011527989.1:c.3192G>T XP_011526291.1:p.Glu1064Asp
XM_011527988.2:c.3150G>T XP_011526290.2:p.Glu1050Asp
XM_011527989.3:c.3114G>T XP_011526291.2:p.Glu1038Asp
NM_000208.4:c.3153G>T MANE Select NP_000199.2:p.Glu1051Asp
NM_001079817.3:c.3117G>T NP_001073285.1:p.Glu1039Asp