Canonical Allele Identifier: CA9135464
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs778219961
gnomAD v2: 19-7132278-G-A
gnomAD v4: 19-7132267-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132267G>A , CM000681.2:g.7132267G>A GRCh38
NC_000019.9:g.7132278G>A , CM000681.1:g.7132278G>A GRCh37
NC_000019.8:g.7083278G>A NCBI36
NG_008852.2:g.166734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2733C>T MANE Select ENSP00000303830.4:p.Cys911=
ENST00000302850.9:c.2733C>T ENSP00000303830.4:p.Cys911=
ENST00000341500.9:c.2697C>T ENSP00000342838.4:p.Cys899=
NM_000208.2:c.2733C>T NP_000199.2:p.Cys911=
NM_000208.3:c.2733C>T NP_000199.2:p.Cys911=
NM_001079817.1:c.2697C>T NP_001073285.1:p.Cys899=
NM_001079817.2:c.2697C>T NP_001073285.1:p.Cys899=
XM_011527988.1:c.2811C>T XP_011526290.1:p.Cys937=
XM_011527989.1:c.2775C>T XP_011526291.1:p.Cys925=
XM_011527988.2:c.2733C>T XP_011526290.2:p.Cys911=
XM_011527989.3:c.2697C>T XP_011526291.2:p.Cys899=
NM_000208.4:c.2733C>T MANE Select NP_000199.2:p.Cys911=
NM_001079817.3:c.2697C>T NP_001073285.1:p.Cys899=