Canonical Allele Identifier: CA505205143
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs2144955283
MyVariant Identifiers: chr19:g.7172440G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172429G>A , CM000681.2:g.7172429G>A GRCh38
NC_000019.9:g.7172440G>A , CM000681.1:g.7172440G>A GRCh37
NC_000019.8:g.7123440G>A NCBI36
NG_008852.2:g.126572C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1129C>T MANE Select ENSP00000303830.4:p.Leu377=
ENST00000302850.9:c.1129C>T ENSP00000303830.4:p.Leu377=
ENST00000341500.9:c.1129C>T ENSP00000342838.4:p.Leu377=
ENST00000598216.1:n.1104C>T
NM_000208.2:c.1129C>T NP_000199.2:p.Leu377=
NM_000208.3:c.1129C>T NP_000199.2:p.Leu377=
NM_001079817.1:c.1129C>T NP_001073285.1:p.Leu377=
NM_001079817.2:c.1129C>T NP_001073285.1:p.Leu377=
XM_011527988.1:c.1207C>T XP_011526290.1:p.Leu403=
XM_011527989.1:c.1207C>T XP_011526291.1:p.Leu403=
XM_011527988.2:c.1129C>T XP_011526290.2:p.Leu377=
XM_011527989.3:c.1129C>T XP_011526291.2:p.Leu377=
NM_000208.4:c.1129C>T MANE Select NP_000199.2:p.Leu377=
NM_001079817.3:c.1129C>T NP_001073285.1:p.Leu377=