Canonical Allele Identifier: CA403671928
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7132173-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132173A>C , CM000681.2:g.7132173A>C GRCh38
NC_000019.9:g.7132184A>C , CM000681.1:g.7132184A>C GRCh37
NC_000019.8:g.7083184A>C NCBI36
NG_008852.2:g.166828T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2827T>G MANE Select ENSP00000303830.4:p.Tyr943Asp
ENST00000302850.9:c.2827T>G ENSP00000303830.4:p.Tyr943Asp
ENST00000341500.9:c.2791T>G ENSP00000342838.4:p.Tyr931Asp
NM_000208.2:c.2827T>G NP_000199.2:p.Tyr943Asp
NM_000208.3:c.2827T>G NP_000199.2:p.Tyr943Asp
NM_001079817.1:c.2791T>G NP_001073285.1:p.Tyr931Asp
NM_001079817.2:c.2791T>G NP_001073285.1:p.Tyr931Asp
XM_011527988.1:c.2905T>G XP_011526290.1:p.Tyr969Asp
XM_011527989.1:c.2869T>G XP_011526291.1:p.Tyr957Asp
XM_011527988.2:c.2827T>G XP_011526290.2:p.Tyr943Asp
XM_011527989.3:c.2791T>G XP_011526291.2:p.Tyr931Asp
NM_000208.4:c.2827T>G MANE Select NP_000199.2:p.Tyr943Asp
NM_001079817.3:c.2791T>G NP_001073285.1:p.Tyr931Asp