Canonical Allele Identifier: CA403668442
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7117172-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117172C>T , CM000681.2:g.7117172C>T GRCh38
NC_000019.9:g.7117183C>T , CM000681.1:g.7117183C>T GRCh37
NC_000019.8:g.7068183C>T NCBI36
NG_008852.2:g.181829G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.4033G>A MANE Select ENSP00000303830.4:p.Gly1345Arg
ENST00000302850.9:c.4033G>A ENSP00000303830.4:p.Gly1345Arg
ENST00000341500.9:c.3997G>A ENSP00000342838.4:p.Gly1333Arg
NM_000208.2:c.4033G>A NP_000199.2:p.Gly1345Arg
NM_000208.3:c.4033G>A NP_000199.2:p.Gly1345Arg
NM_001079817.1:c.3997G>A NP_001073285.1:p.Gly1333Arg
NM_001079817.2:c.3997G>A NP_001073285.1:p.Gly1333Arg
XM_011527988.1:c.4108G>A XP_011526290.1:p.Gly1370Arg
XM_011527989.1:c.4072G>A XP_011526291.1:p.Gly1358Arg
XM_011527988.2:c.4030G>A XP_011526290.2:p.Gly1344Arg
XM_011527989.3:c.3994G>A XP_011526291.2:p.Gly1332Arg
NM_000208.4:c.4033G>A MANE Select NP_000199.2:p.Gly1345Arg
NM_001079817.3:c.3997G>A NP_001073285.1:p.Gly1333Arg