Canonical Allele Identifier: CA9135113

Gene: INSR

Linked Data

• ClinVar Variation Id: 1337699
• ClinVar RCV Id: RCV001820713
• dbSNP Id: rs199599404
• ExAC: 19:7117259 C / G
• gnomAD v2: 19-7117259-C-G
• gnomAD v3: 19-7117248-C-G
• gnomAD v4: 19-7117248-C-G
• MyVariant Identifiers: chr19:g.7117259C>G (hg19) ; chr19:g.7117248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117248C>G , CM000681.2:g.7117248C>G	GRCh38
NC_000019.9:g.7117259C>G , CM000681.1:g.7117259C>G	GRCh37
NC_000019.8:g.7068259C>G	NCBI36
NG_008852.2:g.181753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3957G>C MANE Select	ENSP00000303830.4:p.Met1319Ile
ENST00000302850.9:c.3957G>C	ENSP00000303830.4:p.Met1319Ile
ENST00000341500.9:c.3921G>C	ENSP00000342838.4:p.Met1307Ile
NM_000208.2:c.3957G>C	NP_000199.2:p.Met1319Ile
NM_000208.3:c.3957G>C	NP_000199.2:p.Met1319Ile
NM_001079817.1:c.3921G>C	NP_001073285.1:p.Met1307Ile
NM_001079817.2:c.3921G>C	NP_001073285.1:p.Met1307Ile
XM_011527988.1:c.4032G>C	XP_011526290.1:p.Met1344Ile
XM_011527989.1:c.3996G>C	XP_011526291.1:p.Met1332Ile
XM_011527988.2:c.3954G>C	XP_011526290.2:p.Met1318Ile
XM_011527989.3:c.3918G>C	XP_011526291.2:p.Met1306Ile
NM_000208.4:c.3957G>C MANE Select	NP_000199.2:p.Met1319Ile
NM_001079817.3:c.3921G>C	NP_001073285.1:p.Met1307Ile