Canonical Allele Identifier: CA403662781
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7143076-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7143076C>T , CM000681.2:g.7143076C>T GRCh38
NC_000019.9:g.7143087C>T , CM000681.1:g.7143087C>T GRCh37
NC_000019.8:g.7094087C>T NCBI36
NG_008852.2:g.155925G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2282G>A MANE Select ENSP00000303830.4:p.Arg761His
ENST00000302850.9:c.2282G>A ENSP00000303830.4:p.Arg761His
ENST00000341500.9:c.2246G>A ENSP00000342838.4:p.Arg749His
NM_000208.2:c.2282G>A NP_000199.2:p.Arg761His
NM_000208.3:c.2282G>A NP_000199.2:p.Arg761His
NM_001079817.1:c.2246G>A NP_001073285.1:p.Arg749His
NM_001079817.2:c.2246G>A NP_001073285.1:p.Arg749His
XM_011527988.1:c.2360G>A XP_011526290.1:p.Arg787His
XM_011527989.1:c.2324G>A XP_011526291.1:p.Arg775His
XM_011527988.2:c.2282G>A XP_011526290.2:p.Arg761His
XM_011527989.3:c.2246G>A XP_011526291.2:p.Arg749His
NM_000208.4:c.2282G>A MANE Select NP_000199.2:p.Arg761His
NM_001079817.3:c.2246G>A NP_001073285.1:p.Arg749His