Canonical Allele Identifier: CA10606213

Gene: INSR

Linked Data

• ClinVar Variation Id: 288768
• ClinVar RCV Id: RCV000326627
• dbSNP Id: rs886044001
• MyVariant Identifiers: chr19:g.7267839C>T (hg19) ; chr19:g.7267828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7267828C>T , CM000681.2:g.7267828C>T	GRCh38
NC_000019.9:g.7267839C>T , CM000681.1:g.7267839C>T	GRCh37
NC_000019.8:g.7218839C>T	NCBI36
NG_008852.2:g.31173G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.169G>A MANE Select	ENSP00000303830.4:p.Glu57Lys
ENST00000302850.9:c.169G>A	ENSP00000303830.4:p.Glu57Lys
ENST00000341500.9:c.169G>A	ENSP00000342838.4:p.Glu57Lys
ENST00000598216.1:n.144G>A
NM_000208.2:c.169G>A	NP_000199.2:p.Glu57Lys
NM_000208.3:c.169G>A	NP_000199.2:p.Glu57Lys
NM_001079817.1:c.169G>A	NP_001073285.1:p.Glu57Lys
NM_001079817.2:c.169G>A	NP_001073285.1:p.Glu57Lys
XM_011527988.1:c.247G>A	XP_011526290.1:p.Glu83Lys
XM_011527989.1:c.247G>A	XP_011526291.1:p.Glu83Lys
XM_011527988.2:c.169G>A	XP_011526290.2:p.Glu57Lys
XM_011527989.3:c.169G>A	XP_011526291.2:p.Glu57Lys
NM_000208.4:c.169G>A MANE Select	NP_000199.2:p.Glu57Lys
NM_001079817.3:c.169G>A	NP_001073285.1:p.Glu57Lys