Canonical Allele Identifier: CA403672229

Gene: INSR

Linked Data

• dbSNP Id: rs1182697643
• gnomAD v3: 19-7132317-C-G
• gnomAD v4: 19-7132317-C-G
• MyVariant Identifiers: chr19:g.7132328C>G (hg19) ; chr19:g.7132317C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7132317C>G , CM000681.2:g.7132317C>G	GRCh38
NC_000019.9:g.7132328C>G , CM000681.1:g.7132328C>G	GRCh37
NC_000019.8:g.7083328C>G	NCBI36
NG_008852.2:g.166684G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2683G>C MANE Select	ENSP00000303830.4:p.Glu895Gln
ENST00000302850.9:c.2683G>C	ENSP00000303830.4:p.Glu895Gln
ENST00000341500.9:c.2647G>C	ENSP00000342838.4:p.Glu883Gln
NM_000208.2:c.2683G>C	NP_000199.2:p.Glu895Gln
NM_000208.3:c.2683G>C	NP_000199.2:p.Glu895Gln
NM_001079817.1:c.2647G>C	NP_001073285.1:p.Glu883Gln
NM_001079817.2:c.2647G>C	NP_001073285.1:p.Glu883Gln
XM_011527988.1:c.2761G>C	XP_011526290.1:p.Glu921Gln
XM_011527989.1:c.2725G>C	XP_011526291.1:p.Glu909Gln
XM_011527988.2:c.2683G>C	XP_011526290.2:p.Glu895Gln
XM_011527989.3:c.2647G>C	XP_011526291.2:p.Glu883Gln
NM_000208.4:c.2683G>C MANE Select	NP_000199.2:p.Glu895Gln
NM_001079817.3:c.2647G>C	NP_001073285.1:p.Glu883Gln