Canonical Allele Identifier: CA505217090
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7122945-C-A
MyVariant Identifiers: chr19:g.7122956C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7122945C>A , CM000681.2:g.7122945C>A GRCh38
NC_000019.9:g.7122956C>A , CM000681.1:g.7122956C>A GRCh37
NC_000019.8:g.7073956C>A NCBI36
NG_008852.2:g.176056G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3303G>T MANE Select ENSP00000303830.4:p.Val1101=
ENST00000302850.9:c.3303G>T ENSP00000303830.4:p.Val1101=
ENST00000341500.9:c.3267G>T ENSP00000342838.4:p.Val1089=
ENST00000593970.1:n.149G>T
ENST00000601099.1:n.214G>T
NM_000208.2:c.3303G>T NP_000199.2:p.Val1101=
NM_000208.3:c.3303G>T NP_000199.2:p.Val1101=
NM_001079817.1:c.3267G>T NP_001073285.1:p.Val1089=
NM_001079817.2:c.3267G>T NP_001073285.1:p.Val1089=
XM_011527988.1:c.3378G>T XP_011526290.1:p.Val1126=
XM_011527989.1:c.3342G>T XP_011526291.1:p.Val1114=
XM_011527988.2:c.3300G>T XP_011526290.2:p.Val1100=
XM_011527989.3:c.3264G>T XP_011526291.2:p.Val1088=
NM_000208.4:c.3303G>T MANE Select NP_000199.2:p.Val1101=
NM_001079817.3:c.3267G>T NP_001073285.1:p.Val1089=