Canonical Allele Identifier: CA10643395

Gene: INSR

Linked Data

• ClinVar Variation Id: 330401
• ClinVar RCV Id: RCV000295505 ; RCV000350293 ; RCV000406019
• dbSNP Id: rs147080388
• gnomAD v2: 19-7115268-G-A
• gnomAD v3: 19-7115257-G-A
• gnomAD v4: 19-7115257-G-A
• MyVariant Identifiers: chr19:g.7115268G>A (hg19) ; chr19:g.7115257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7115257G>A , CM000681.2:g.7115257G>A	GRCh38
NC_000019.9:g.7115268G>A , CM000681.1:g.7115268G>A	GRCh37
NC_000019.8:g.7066268G>A	NCBI36
NG_008852.2:g.183744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.*1799C>T MANE Select	ENSP00000303830.4:n.*1799C>T
ENST00000341500.9:c.*1799C>T	ENSP00000342838.4:n.*1799C>T
NM_000208.2:c.*1799C>T	NP_000199.2:n.*1799C>T
NM_000208.3:c.*1799C>T	NP_000199.2:n.*1799C>T
NM_001079817.1:c.*1799C>T	NP_001073285.1:n.*1799C>T
NM_001079817.2:c.*1799C>T	NP_001073285.1:n.*1799C>T
XM_011527988.1:c.*1799C>T	XP_011526290.1:n.*1799C>T
XM_011527989.1:c.*1799C>T	XP_011526291.1:n.*1799C>T
XM_011527988.2:c.*1799C>T	XP_011526290.2:n.*1799C>T
XM_011527989.3:c.*1799C>T	XP_011526291.2:n.*1799C>T
NM_000208.4:c.*1799C>T MANE Select	NP_000199.2:n.*1799C>T
NM_001079817.3:c.*1799C>T	NP_001073285.1:n.*1799C>T