Canonical Allele Identifier: CA240819

Gene: INSR

Linked Data

• ClinVar Variation Id: 194702
• ClinVar RCV Id: RCV000175130 ; RCV000284948 ; RCV000338672 ; RCV000391259 ; RCV001329695
• dbSNP Id: rs56395521
• ExAC: 19:7125359 G / C
• gnomAD v2: 19-7125359-G-C
• gnomAD v3: 19-7125348-G-C
• gnomAD v4: 19-7125348-G-C
• MyVariant Identifiers: chr19:g.7125359G>C (hg19) ; chr19:g.7125348G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125348G>C , CM000681.2:g.7125348G>C	GRCh38
NC_000019.9:g.7125359G>C , CM000681.1:g.7125359G>C	GRCh37
NC_000019.8:g.7076359G>C	NCBI36
NG_008852.2:g.173653C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3193C>G MANE Select	ENSP00000303830.4:p.Leu1065Val
ENST00000302850.9:c.3193C>G	ENSP00000303830.4:p.Leu1065Val
ENST00000341500.9:c.3157C>G	ENSP00000342838.4:p.Leu1053Val
ENST00000593970.1:n.39C>G
NM_000208.2:c.3193C>G	NP_000199.2:p.Leu1065Val
NM_000208.3:c.3193C>G	NP_000199.2:p.Leu1065Val
NM_001079817.1:c.3157C>G	NP_001073285.1:p.Leu1053Val
NM_001079817.2:c.3157C>G	NP_001073285.1:p.Leu1053Val
XM_011527988.1:c.3268C>G	XP_011526290.1:p.Leu1090Val
XM_011527989.1:c.3232C>G	XP_011526291.1:p.Leu1078Val
XM_011527988.2:c.3190C>G	XP_011526290.2:p.Leu1064Val
XM_011527989.3:c.3154C>G	XP_011526291.2:p.Leu1052Val
NM_000208.4:c.3193C>G MANE Select	NP_000199.2:p.Leu1065Val
NM_001079817.3:c.3157C>G	NP_001073285.1:p.Leu1053Val