Canonical Allele Identifier: CA9135351

Gene: INSR

Linked Data

• ClinVar Variation Id: 631539
• ClinVar RCV Id: RCV000778147 ; RCV001132182 ; RCV001132181 ; RCV002487597
• dbSNP Id: rs200921389
• ExAC: 19:7125409 C / T
• gnomAD v2: 19-7125409-C-T
• gnomAD v3: 19-7125398-C-T
• gnomAD v4: 19-7125398-C-T
• MyVariant Identifiers: chr19:g.7125409C>T (hg19) ; chr19:g.7125398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125398C>T , CM000681.2:g.7125398C>T	GRCh38
NC_000019.9:g.7125409C>T , CM000681.1:g.7125409C>T	GRCh37
NC_000019.8:g.7076409C>T	NCBI36
NG_008852.2:g.173603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3143G>A MANE Select	ENSP00000303830.4:p.Gly1048Asp
ENST00000302850.9:c.3143G>A	ENSP00000303830.4:p.Gly1048Asp
ENST00000341500.9:c.3107G>A	ENSP00000342838.4:p.Gly1036Asp
NM_000208.2:c.3143G>A	NP_000199.2:p.Gly1048Asp
NM_000208.3:c.3143G>A	NP_000199.2:p.Gly1048Asp
NM_001079817.1:c.3107G>A	NP_001073285.1:p.Gly1036Asp
NM_001079817.2:c.3107G>A	NP_001073285.1:p.Gly1036Asp
XM_011527988.1:c.3218G>A	XP_011526290.1:p.Gly1073Asp
XM_011527989.1:c.3182G>A	XP_011526291.1:p.Gly1061Asp
XM_011527988.2:c.3140G>A	XP_011526290.2:p.Gly1047Asp
XM_011527989.3:c.3104G>A	XP_011526291.2:p.Gly1035Asp
NM_000208.4:c.3143G>A MANE Select	NP_000199.2:p.Gly1048Asp
NM_001079817.3:c.3107G>A	NP_001073285.1:p.Gly1036Asp