Canonical Allele Identifier: CA205421
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 211193
dbSNP Id: rs797045625
gnomAD v2: 19-7141772-G-A
gnomAD v3: 19-7141761-G-A
gnomAD v4: 19-7141761-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7141761G>A , CM000681.2:g.7141761G>A GRCh38
NC_000019.9:g.7141772G>A , CM000681.1:g.7141772G>A GRCh37
NC_000019.8:g.7092772G>A NCBI36
NG_008852.2:g.157240C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2598C>T MANE Select ENSP00000303830.4:p.Val866=
ENST00000302850.9:c.2598C>T ENSP00000303830.4:p.Val866=
ENST00000341500.9:c.2562C>T ENSP00000342838.4:p.Val854=
ENST00000597211.1:n.281C>T
NM_000208.2:c.2598C>T NP_000199.2:p.Val866=
NM_000208.3:c.2598C>T NP_000199.2:p.Val866=
NM_001079817.1:c.2562C>T NP_001073285.1:p.Val854=
NM_001079817.2:c.2562C>T NP_001073285.1:p.Val854=
XM_011527988.1:c.2676C>T XP_011526290.1:p.Val892=
XM_011527989.1:c.2640C>T XP_011526291.1:p.Val880=
XM_011527988.2:c.2598C>T XP_011526290.2:p.Val866=
XM_011527989.3:c.2562C>T XP_011526291.2:p.Val854=
NM_000208.4:c.2598C>T MANE Select NP_000199.2:p.Val866=
NM_001079817.3:c.2562C>T NP_001073285.1:p.Val854=