Canonical Allele Identifier: CA403672052
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7132233-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132233C>A , CM000681.2:g.7132233C>A GRCh38
NC_000019.9:g.7132244C>A , CM000681.1:g.7132244C>A GRCh37
NC_000019.8:g.7083244C>A NCBI36
NG_008852.2:g.166768G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2767G>T MANE Select ENSP00000303830.4:p.Val923Leu
ENST00000302850.9:c.2767G>T ENSP00000303830.4:p.Val923Leu
ENST00000341500.9:c.2731G>T ENSP00000342838.4:p.Val911Leu
NM_000208.2:c.2767G>T NP_000199.2:p.Val923Leu
NM_000208.3:c.2767G>T NP_000199.2:p.Val923Leu
NM_001079817.1:c.2731G>T NP_001073285.1:p.Val911Leu
NM_001079817.2:c.2731G>T NP_001073285.1:p.Val911Leu
XM_011527988.1:c.2845G>T XP_011526290.1:p.Val949Leu
XM_011527989.1:c.2809G>T XP_011526291.1:p.Val937Leu
XM_011527988.2:c.2767G>T XP_011526290.2:p.Val923Leu
XM_011527989.3:c.2731G>T XP_011526291.2:p.Val911Leu
NM_000208.4:c.2767G>T MANE Select NP_000199.2:p.Val923Leu
NM_001079817.3:c.2731G>T NP_001073285.1:p.Val911Leu