Canonical Allele Identifier: CA10643362

Gene: INSR

Linked Data

• ClinVar Variation Id: 330348
• ClinVar RCV Id: RCV000311008 ; RCV000355368 ; RCV000398125
• dbSNP Id: rs1052371
• gnomAD v2: 19-7112593-G-A
• gnomAD v3: 19-7112582-G-A
• gnomAD v4: 19-7112582-G-A
• MyVariant Identifiers: chr19:g.7112593G>A (hg19) ; chr19:g.7112582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7112582G>A , CM000681.2:g.7112582G>A	GRCh38
NC_000019.9:g.7112593G>A , CM000681.1:g.7112593G>A	GRCh37
NC_000019.8:g.7063593G>A	NCBI36
NG_008852.2:g.186419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.*4474C>T MANE Select	ENSP00000303830.4:n.*4474C>T
ENST00000341500.9:c.*4474C>T	ENSP00000342838.4:n.*4474C>T
NM_000208.2:c.*4474C>T	NP_000199.2:n.*4474C>T
NM_000208.3:c.*4474C>T	NP_000199.2:n.*4474C>T
NM_001079817.1:c.*4474C>T	NP_001073285.1:n.*4474C>T
NM_001079817.2:c.*4474C>T	NP_001073285.1:n.*4474C>T
XM_011527988.1:c.*4474C>T	XP_011526290.1:n.*4474C>T
XM_011527989.1:c.*4474C>T	XP_011526291.1:n.*4474C>T
XM_011527988.2:c.*4474C>T	XP_011526290.2:n.*4474C>T
XM_011527989.3:c.*4474C>T	XP_011526291.2:n.*4474C>T
NM_000208.4:c.*4474C>T MANE Select	NP_000199.2:n.*4474C>T
NM_001079817.3:c.*4474C>T	NP_001073285.1:n.*4474C>T