Canonical Allele Identifier: CA9135315
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 439833
ClinVar RCV Id: RCV000508055
dbSNP Id: rs148813626

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7123020G>A , CM000681.2:g.7123020G>A GRCh38
NC_000019.9:g.7123031G>A , CM000681.1:g.7123031G>A GRCh37
NC_000019.8:g.7074031G>A NCBI36
NG_008852.2:g.175981C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3259-31C>T MANE Select ENSP00000303830.4:p.=
ENST00000302850.9:c.3259-31C>T ENSP00000303830.4:p.=
ENST00000341500.9:c.3223-31C>T ENSP00000342838.4:p.=
ENST00000593970.1:n.105-31C>T
ENST00000601099.1:n.139C>T
NM_000208.2:c.3259-31C>T NP_000199.2:p.=
NM_000208.3:c.3259-31C>T NP_000199.2:p.=
NM_001079817.1:c.3223-31C>T NP_001073285.1:p.=
NM_001079817.2:c.3223-31C>T NP_001073285.1:p.=
XM_011527988.1:c.3334-31C>T XP_011526290.1:p.=
XM_011527989.1:c.3298-31C>T XP_011526291.1:p.=
XM_011527988.2:c.3256-31C>T XP_011526290.2:p.=
XM_011527989.3:c.3220-31C>T XP_011526291.2:p.=
NM_000208.4:c.3259-31C>T MANE Select NP_000199.2:p.=
NM_001079817.3:c.3223-31C>T NP_001073285.1:p.=