Canonical Allele Identifier: CA304866647

Gene: INSR

Linked Data

• dbSNP Id: rs889429317
• MyVariant Identifiers: chr19:g.7184558T>G (hg19) ; chr19:g.7184547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7184547T>G , CM000681.2:g.7184547T>G	GRCh38
NC_000019.9:g.7184558T>G , CM000681.1:g.7184558T>G	GRCh37
NC_000019.8:g.7135558T>G	NCBI36
NG_008852.2:g.114454A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.743A>C MANE Select	ENSP00000303830.4:p.Asp248Ala
ENST00000302850.9:c.743A>C	ENSP00000303830.4:p.Asp248Ala
ENST00000341500.9:c.743A>C	ENSP00000342838.4:p.Asp248Ala
ENST00000598216.1:n.718A>C
NM_000208.2:c.743A>C	NP_000199.2:p.Asp248Ala
NM_000208.3:c.743A>C	NP_000199.2:p.Asp248Ala
NM_001079817.1:c.743A>C	NP_001073285.1:p.Asp248Ala
NM_001079817.2:c.743A>C	NP_001073285.1:p.Asp248Ala
XM_011527988.1:c.821A>C	XP_011526290.1:p.Asp274Ala
XM_011527989.1:c.821A>C	XP_011526291.1:p.Asp274Ala
XM_011527988.2:c.743A>C	XP_011526290.2:p.Asp248Ala
XM_011527989.3:c.743A>C	XP_011526291.2:p.Asp248Ala
NM_000208.4:c.743A>C MANE Select	NP_000199.2:p.Asp248Ala
NM_001079817.3:c.743A>C	NP_001073285.1:p.Asp248Ala