Canonical Allele Identifier: CA403668509
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7117204-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117204T>A , CM000681.2:g.7117204T>A GRCh38
NC_000019.9:g.7117215T>A , CM000681.1:g.7117215T>A GRCh37
NC_000019.8:g.7068215T>A NCBI36
NG_008852.2:g.181797A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.4001A>T MANE Select ENSP00000303830.4:p.His1334Leu
ENST00000302850.9:c.4001A>T ENSP00000303830.4:p.His1334Leu
ENST00000341500.9:c.3965A>T ENSP00000342838.4:p.His1322Leu
NM_000208.2:c.4001A>T NP_000199.2:p.His1334Leu
NM_000208.3:c.4001A>T NP_000199.2:p.His1334Leu
NM_001079817.1:c.3965A>T NP_001073285.1:p.His1322Leu
NM_001079817.2:c.3965A>T NP_001073285.1:p.His1322Leu
XM_011527988.1:c.4076A>T XP_011526290.1:p.His1359Leu
XM_011527989.1:c.4040A>T XP_011526291.1:p.His1347Leu
XM_011527988.2:c.3998A>T XP_011526290.2:p.His1333Leu
XM_011527989.3:c.3962A>T XP_011526291.2:p.His1321Leu
NM_000208.4:c.4001A>T MANE Select NP_000199.2:p.His1334Leu
NM_001079817.3:c.3965A>T NP_001073285.1:p.His1322Leu