Canonical Allele Identifier: CA124275
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 14714
ClinVar RCV Id: RCV000015829
dbSNP Id: rs121913160
gnomAD v4: 19-7170648-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7170648T>C , CM000681.2:g.7170648T>C GRCh38
NC_000019.9:g.7170659T>C , CM000681.1:g.7170659T>C GRCh37
NC_000019.8:g.7121659T>C NCBI36
NG_008852.2:g.128353A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1372A>G MANE Select ENSP00000303830.4:p.Asn458Asp
ENST00000302850.9:c.1372A>G ENSP00000303830.4:p.Asn458Asp
ENST00000341500.9:c.1372A>G ENSP00000342838.4:p.Asn458Asp
ENST00000598216.1:n.1347A>G
NM_000208.2:c.1372A>G NP_000199.2:p.Asn458Asp
NM_000208.3:c.1372A>G NP_000199.2:p.Asn458Asp
NM_001079817.1:c.1372A>G NP_001073285.1:p.Asn458Asp
NM_001079817.2:c.1372A>G NP_001073285.1:p.Asn458Asp
XM_011527988.1:c.1450A>G XP_011526290.1:p.Asn484Asp
XM_011527989.1:c.1450A>G XP_011526291.1:p.Asn484Asp
XM_011527988.2:c.1372A>G XP_011526290.2:p.Asn458Asp
XM_011527989.3:c.1372A>G XP_011526291.2:p.Asn458Asp
NM_000208.4:c.1372A>G MANE Select NP_000199.2:p.Asn458Asp
NM_001079817.3:c.1372A>G NP_001073285.1:p.Asn458Asp