Canonical Allele Identifier: CA403159910

Gene: INSR

Linked Data

• ClinVar Variation Id: 2200202
• ClinVar RCV Id: RCV002638095 ; RCV004538855
• dbSNP Id: rs1347473020
• gnomAD v2: 19-7267652-G-A
• gnomAD v3: 19-7267641-G-A
• gnomAD v4: 19-7267641-G-A
• MyVariant Identifiers: chr19:g.7267652G>A (hg19) ; chr19:g.7267641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7267641G>A , CM000681.2:g.7267641G>A	GRCh38
NC_000019.9:g.7267652G>A , CM000681.1:g.7267652G>A	GRCh37
NC_000019.8:g.7218652G>A	NCBI36
NG_008852.2:g.31360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.356C>T MANE Select	ENSP00000303830.4:p.Ala119Val
ENST00000302850.9:c.356C>T	ENSP00000303830.4:p.Ala119Val
ENST00000341500.9:c.356C>T	ENSP00000342838.4:p.Ala119Val
ENST00000598216.1:n.331C>T
NM_000208.2:c.356C>T	NP_000199.2:p.Ala119Val
NM_000208.3:c.356C>T	NP_000199.2:p.Ala119Val
NM_001079817.1:c.356C>T	NP_001073285.1:p.Ala119Val
NM_001079817.2:c.356C>T	NP_001073285.1:p.Ala119Val
XM_011527988.1:c.434C>T	XP_011526290.1:p.Ala145Val
XM_011527989.1:c.434C>T	XP_011526291.1:p.Ala145Val
XM_011527988.2:c.356C>T	XP_011526290.2:p.Ala119Val
XM_011527989.3:c.356C>T	XP_011526291.2:p.Ala119Val
NM_000208.4:c.356C>T MANE Select	NP_000199.2:p.Ala119Val
NM_001079817.3:c.356C>T	NP_001073285.1:p.Ala119Val