Canonical Allele Identifier: CA9135562

Gene: INSR

Linked Data

• ClinVar Variation Id: 330461
• ClinVar RCV Id: RCV000268776 ; RCV000328500 ; RCV000363379 ; RCV000883526
• dbSNP Id: rs16994210
• ExAC: 19:7142999 C / T
• gnomAD v2: 19-7142999-C-T
• gnomAD v3: 19-7142988-C-T
• gnomAD v4: 19-7142988-C-T
• MyVariant Identifiers: chr19:g.7142999C>T (hg19) ; chr19:g.7142988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7142988C>T , CM000681.2:g.7142988C>T	GRCh38
NC_000019.9:g.7142999C>T , CM000681.1:g.7142999C>T	GRCh37
NC_000019.8:g.7093999C>T	NCBI36
NG_008852.2:g.156013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2370G>A MANE Select	ENSP00000303830.4:p.Thr790=
ENST00000302850.9:c.2370G>A	ENSP00000303830.4:p.Thr790=
ENST00000341500.9:c.2334G>A	ENSP00000342838.4:p.Thr778=
ENST00000597211.1:n.53G>A
NM_000208.2:c.2370G>A	NP_000199.2:p.Thr790=
NM_000208.3:c.2370G>A	NP_000199.2:p.Thr790=
NM_001079817.1:c.2334G>A	NP_001073285.1:p.Thr778=
NM_001079817.2:c.2334G>A	NP_001073285.1:p.Thr778=
XM_011527988.1:c.2448G>A	XP_011526290.1:p.Thr816=
XM_011527989.1:c.2412G>A	XP_011526291.1:p.Thr804=
XM_011527988.2:c.2370G>A	XP_011526290.2:p.Thr790=
XM_011527989.3:c.2334G>A	XP_011526291.2:p.Thr778=
NM_000208.4:c.2370G>A MANE Select	NP_000199.2:p.Thr790=
NM_001079817.3:c.2334G>A	NP_001073285.1:p.Thr778=