Canonical Allele Identifier: CA10643391

Gene: INSR

Linked Data

• ClinVar Variation Id: 330390
• ClinVar RCV Id: RCV000277328 ; RCV000332479 ; RCV000362645 ; RCV003418043
• dbSNP Id: rs80330850
• gnomAD v2: 19-7114749-C-T
• gnomAD v3: 19-7114738-C-T
• gnomAD v4: 19-7114738-C-T
• MyVariant Identifiers: chr19:g.7114749C>T (hg19) ; chr19:g.7114738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7114738C>T , CM000681.2:g.7114738C>T	GRCh38
NC_000019.9:g.7114749C>T , CM000681.1:g.7114749C>T	GRCh37
NC_000019.8:g.7065749C>T	NCBI36
NG_008852.2:g.184263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.*2318G>A MANE Select	ENSP00000303830.4:n.*2318G>A
ENST00000341500.9:c.*2318G>A	ENSP00000342838.4:n.*2318G>A
NM_000208.2:c.*2318G>A	NP_000199.2:n.*2318G>A
NM_000208.3:c.*2318G>A	NP_000199.2:n.*2318G>A
NM_001079817.1:c.*2318G>A	NP_001073285.1:n.*2318G>A
NM_001079817.2:c.*2318G>A	NP_001073285.1:n.*2318G>A
XM_011527988.1:c.*2318G>A	XP_011526290.1:n.*2318G>A
XM_011527989.1:c.*2318G>A	XP_011526291.1:n.*2318G>A
XM_011527988.2:c.*2318G>A	XP_011526290.2:n.*2318G>A
XM_011527989.3:c.*2318G>A	XP_011526291.2:n.*2318G>A
NM_000208.4:c.*2318G>A MANE Select	NP_000199.2:n.*2318G>A
NM_001079817.3:c.*2318G>A	NP_001073285.1:n.*2318G>A