Canonical Allele Identifier: CA304866454
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs765888394
gnomAD v2: 19-7184388-C-T
gnomAD v3: 19-7184377-C-T
gnomAD v4: 19-7184377-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184377C>T , CM000681.2:g.7184377C>T GRCh38
NC_000019.9:g.7184388C>T , CM000681.1:g.7184388C>T GRCh37
NC_000019.8:g.7135388C>T NCBI36
NG_008852.2:g.114624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.913G>A MANE Select ENSP00000303830.4:p.Val305Ile
ENST00000302850.9:c.913G>A ENSP00000303830.4:p.Val305Ile
ENST00000341500.9:c.913G>A ENSP00000342838.4:p.Val305Ile
ENST00000598216.1:n.888G>A
NM_000208.2:c.913G>A NP_000199.2:p.Val305Ile
NM_000208.3:c.913G>A NP_000199.2:p.Val305Ile
NM_001079817.1:c.913G>A NP_001073285.1:p.Val305Ile
NM_001079817.2:c.913G>A NP_001073285.1:p.Val305Ile
XM_011527988.1:c.991G>A XP_011526290.1:p.Val331Ile
XM_011527989.1:c.991G>A XP_011526291.1:p.Val331Ile
XM_011527988.2:c.913G>A XP_011526290.2:p.Val305Ile
XM_011527989.3:c.913G>A XP_011526291.2:p.Val305Ile
NM_000208.4:c.913G>A MANE Select NP_000199.2:p.Val305Ile
NM_001079817.3:c.913G>A NP_001073285.1:p.Val305Ile