Canonical Allele Identifier: CA631692391
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1452418265
gnomAD v2: 19-7116803-C-A
gnomAD v3: 19-7116792-C-A
gnomAD v4: 19-7116792-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7116792C>A , CM000681.2:g.7116792C>A GRCh38
NC_000019.9:g.7116803C>A , CM000681.1:g.7116803C>A GRCh37
NC_000019.8:g.7067803C>A NCBI36
NG_008852.2:g.182209G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.*264G>T MANE Select ENSP00000303830.4:n.*264G>T
ENST00000302850.9:c.*264G>T ENSP00000303830.4:n.*264G>T
ENST00000341500.9:c.*264G>T ENSP00000342838.4:n.*264G>T
NM_000208.2:c.*264G>T NP_000199.2:n.*264G>T
NM_000208.3:c.*264G>T NP_000199.2:n.*264G>T
NM_001079817.1:c.*264G>T NP_001073285.1:n.*264G>T
NM_001079817.2:c.*264G>T NP_001073285.1:n.*264G>T
XM_011527988.1:c.*264G>T XP_011526290.1:n.*264G>T
XM_011527989.1:c.*264G>T XP_011526291.1:n.*264G>T
XM_011527988.2:c.*264G>T XP_011526290.2:n.*264G>T
XM_011527989.3:c.*264G>T XP_011526291.2:n.*264G>T
NM_000208.4:c.*264G>T MANE Select NP_000199.2:n.*264G>T
NM_001079817.3:c.*264G>T NP_001073285.1:n.*264G>T