Canonical Allele Identifier: CA304866494
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs982095767
gnomAD v2: 19-7184414-G-A
gnomAD v3: 19-7184403-G-A
gnomAD v4: 19-7184403-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184403G>A , CM000681.2:g.7184403G>A GRCh38
NC_000019.9:g.7184414G>A , CM000681.1:g.7184414G>A GRCh37
NC_000019.8:g.7135414G>A NCBI36
NG_008852.2:g.114598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.887C>T MANE Select ENSP00000303830.4:p.Ser296Leu
ENST00000302850.9:c.887C>T ENSP00000303830.4:p.Ser296Leu
ENST00000341500.9:c.887C>T ENSP00000342838.4:p.Ser296Leu
ENST00000598216.1:n.862C>T
NM_000208.2:c.887C>T NP_000199.2:p.Ser296Leu
NM_000208.3:c.887C>T NP_000199.2:p.Ser296Leu
NM_001079817.1:c.887C>T NP_001073285.1:p.Ser296Leu
NM_001079817.2:c.887C>T NP_001073285.1:p.Ser296Leu
XM_011527988.1:c.965C>T XP_011526290.1:p.Ser322Leu
XM_011527989.1:c.965C>T XP_011526291.1:p.Ser322Leu
XM_011527988.2:c.887C>T XP_011526290.2:p.Ser296Leu
XM_011527989.3:c.887C>T XP_011526291.2:p.Ser296Leu
NM_000208.4:c.887C>T MANE Select NP_000199.2:p.Ser296Leu
NM_001079817.3:c.887C>T NP_001073285.1:p.Ser296Leu