Canonical Allele Identifier: CA403672204

Gene: INSR

Linked Data

• dbSNP Id: rs1972806622
• gnomAD v3: 19-7132307-A-C
• gnomAD v4: 19-7132307-A-C
• MyVariant Identifiers: chr19:g.7132318A>C (hg19) ; chr19:g.7132307A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132307A>C , CM000681.2:g.7132307A>C	GRCh38
NC_000019.9:g.7132318A>C , CM000681.1:g.7132318A>C	GRCh37
NC_000019.8:g.7083318A>C	NCBI36
NG_008852.2:g.166694T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2693T>G MANE Select	ENSP00000303830.4:p.Leu898Arg
ENST00000302850.9:c.2693T>G	ENSP00000303830.4:p.Leu898Arg
ENST00000341500.9:c.2657T>G	ENSP00000342838.4:p.Leu886Arg
NM_000208.2:c.2693T>G	NP_000199.2:p.Leu898Arg
NM_000208.3:c.2693T>G	NP_000199.2:p.Leu898Arg
NM_001079817.1:c.2657T>G	NP_001073285.1:p.Leu886Arg
NM_001079817.2:c.2657T>G	NP_001073285.1:p.Leu886Arg
XM_011527988.1:c.2771T>G	XP_011526290.1:p.Leu924Arg
XM_011527989.1:c.2735T>G	XP_011526291.1:p.Leu912Arg
XM_011527988.2:c.2693T>G	XP_011526290.2:p.Leu898Arg
XM_011527989.3:c.2657T>G	XP_011526291.2:p.Leu886Arg
NM_000208.4:c.2693T>G MANE Select	NP_000199.2:p.Leu898Arg
NM_001079817.3:c.2657T>G	NP_001073285.1:p.Leu886Arg