Canonical Allele Identifier: CA505217133
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125283-C-G
MyVariant Identifiers: chr19:g.7125294C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125283C>G , CM000681.2:g.7125283C>G GRCh38
NC_000019.9:g.7125294C>G , CM000681.1:g.7125294C>G GRCh37
NC_000019.8:g.7076294C>G NCBI36
NG_008852.2:g.173718G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3258G>C MANE Select ENSP00000303830.4:p.Val1086=
ENST00000302850.9:c.3258G>C ENSP00000303830.4:p.Val1086=
ENST00000341500.9:c.3222G>C ENSP00000342838.4:p.Val1074=
ENST00000593970.1:n.104G>C
NM_000208.2:c.3258G>C NP_000199.2:p.Val1086=
NM_000208.3:c.3258G>C NP_000199.2:p.Val1086=
NM_001079817.1:c.3222G>C NP_001073285.1:p.Val1074=
NM_001079817.2:c.3222G>C NP_001073285.1:p.Val1074=
XM_011527988.1:c.3333G>C XP_011526290.1:p.Val1111=
XM_011527989.1:c.3297G>C XP_011526291.1:p.Val1099=
XM_011527988.2:c.3255G>C XP_011526290.2:p.Val1085=
XM_011527989.3:c.3219G>C XP_011526291.2:p.Val1073=
NM_000208.4:c.3258G>C MANE Select NP_000199.2:p.Val1086=
NM_001079817.3:c.3222G>C NP_001073285.1:p.Val1074=