Canonical Allele Identifier: CA9135467

Gene: INSR

Linked Data

• dbSNP Id: rs780429736
• ExAC: 19:7132292 G / C
• gnomAD v2: 19-7132292-G-C
• gnomAD v3: 19-7132281-G-C
• gnomAD v4: 19-7132281-G-C
• MyVariant Identifiers: chr19:g.7132292G>C (hg19) ; chr19:g.7132281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132281G>C , CM000681.2:g.7132281G>C	GRCh38
NC_000019.9:g.7132292G>C , CM000681.1:g.7132292G>C	GRCh37
NC_000019.8:g.7083292G>C	NCBI36
NG_008852.2:g.166720C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2719C>G MANE Select	ENSP00000303830.4:p.Leu907Val
ENST00000302850.9:c.2719C>G	ENSP00000303830.4:p.Leu907Val
ENST00000341500.9:c.2683C>G	ENSP00000342838.4:p.Leu895Val
NM_000208.2:c.2719C>G	NP_000199.2:p.Leu907Val
NM_000208.3:c.2719C>G	NP_000199.2:p.Leu907Val
NM_001079817.1:c.2683C>G	NP_001073285.1:p.Leu895Val
NM_001079817.2:c.2683C>G	NP_001073285.1:p.Leu895Val
XM_011527988.1:c.2797C>G	XP_011526290.1:p.Leu933Val
XM_011527989.1:c.2761C>G	XP_011526291.1:p.Leu921Val
XM_011527988.2:c.2719C>G	XP_011526290.2:p.Leu907Val
XM_011527989.3:c.2683C>G	XP_011526291.2:p.Leu895Val
NM_000208.4:c.2719C>G MANE Select	NP_000199.2:p.Leu907Val
NM_001079817.3:c.2683C>G	NP_001073285.1:p.Leu895Val