Canonical Allele Identifier: CA403671450
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125509-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125509T>A , CM000681.2:g.7125509T>A GRCh38
NC_000019.9:g.7125520T>A , CM000681.1:g.7125520T>A GRCh37
NC_000019.8:g.7076520T>A NCBI36
NG_008852.2:g.173492A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3032A>T MANE Select ENSP00000303830.4:p.Tyr1011Phe
ENST00000302850.9:c.3032A>T ENSP00000303830.4:p.Tyr1011Phe
ENST00000341500.9:c.2996A>T ENSP00000342838.4:p.Tyr999Phe
NM_000208.2:c.3032A>T NP_000199.2:p.Tyr1011Phe
NM_000208.3:c.3032A>T NP_000199.2:p.Tyr1011Phe
NM_001079817.1:c.2996A>T NP_001073285.1:p.Tyr999Phe
NM_001079817.2:c.2996A>T NP_001073285.1:p.Tyr999Phe
XM_011527988.1:c.3107A>T XP_011526290.1:p.Tyr1036Phe
XM_011527989.1:c.3071A>T XP_011526291.1:p.Tyr1024Phe
XM_011527988.2:c.3029A>T XP_011526290.2:p.Tyr1010Phe
XM_011527989.3:c.2993A>T XP_011526291.2:p.Tyr998Phe
NM_000208.4:c.3032A>T MANE Select NP_000199.2:p.Tyr1011Phe
NM_001079817.3:c.2996A>T NP_001073285.1:p.Tyr999Phe