Canonical Allele Identifier: CA505400465
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7184483-C-G
MyVariant Identifiers: chr19:g.7184494C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184483C>G , CM000681.2:g.7184483C>G GRCh38
NC_000019.9:g.7184494C>G , CM000681.1:g.7184494C>G GRCh37
NC_000019.8:g.7135494C>G NCBI36
NG_008852.2:g.114518G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.807G>C MANE Select ENSP00000303830.4:p.Pro269=
ENST00000302850.9:c.807G>C ENSP00000303830.4:p.Pro269=
ENST00000341500.9:c.807G>C ENSP00000342838.4:p.Pro269=
ENST00000598216.1:n.782G>C
NM_000208.2:c.807G>C NP_000199.2:p.Pro269=
NM_000208.3:c.807G>C NP_000199.2:p.Pro269=
NM_001079817.1:c.807G>C NP_001073285.1:p.Pro269=
NM_001079817.2:c.807G>C NP_001073285.1:p.Pro269=
XM_011527988.1:c.885G>C XP_011526290.1:p.Pro295=
XM_011527989.1:c.885G>C XP_011526291.1:p.Pro295=
XM_011527988.2:c.807G>C XP_011526290.2:p.Pro269=
XM_011527989.3:c.807G>C XP_011526291.2:p.Pro269=
NM_000208.4:c.807G>C MANE Select NP_000199.2:p.Pro269=
NM_001079817.3:c.807G>C NP_001073285.1:p.Pro269=