Canonical Allele Identifier: CA9135922
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 330472
dbSNP Id: rs72549236
gnomAD v2: 19-7174581-C-A
gnomAD v3: 19-7174570-C-A
gnomAD v4: 19-7174570-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7174570C>A , CM000681.2:g.7174570C>A GRCh38
NC_000019.9:g.7174581C>A , CM000681.1:g.7174581C>A GRCh37
NC_000019.8:g.7125581C>A NCBI36
NG_008852.2:g.124431G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.1123+13G>T MANE Select ENSP00000303830.4:n.1123+13G>T
ENST00000302850.9:c.1123+13G>T ENSP00000303830.4:n.1123+13G>T
ENST00000341500.9:c.1123+13G>T ENSP00000342838.4:n.1123+13G>T
ENST00000598216.1:n.1098+13G>T
NM_000208.2:c.1123+13G>T NP_000199.2:n.1123+13G>T
NM_000208.3:c.1123+13G>T NP_000199.2:n.1123+13G>T
NM_001079817.1:c.1123+13G>T NP_001073285.1:n.1123+13G>T
NM_001079817.2:c.1123+13G>T NP_001073285.1:n.1123+13G>T
XM_011527988.1:c.1201+13G>T XP_011526290.1:n.1201+13G>T
XM_011527989.1:c.1201+13G>T XP_011526291.1:n.1201+13G>T
XM_011527988.2:c.1123+13G>T XP_011526290.2:n.1123+13G>T
XM_011527989.3:c.1123+13G>T XP_011526291.2:n.1123+13G>T
NM_000208.4:c.1123+13G>T MANE Select NP_000199.2:n.1123+13G>T
NM_001079817.3:c.1123+13G>T NP_001073285.1:n.1123+13G>T