Canonical Allele Identifier: CA10642498

Gene: AICDA

Linked Data

• ClinVar Variation Id: 310551
• ClinVar RCV Id: RCV001844121
• dbSNP Id: rs201738977
• gnomAD v2: 12-8755426-T-TC
• gnomAD v3: 12-8602830-T-TC
• gnomAD v4: 12-8602830-T-TC
• MyVariant Identifiers: chr12:g.8755426_8755427insC (hg19) ; chr12:g.8602830_8602831insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8602830_8602831insC , CM000674.2:g.8602830_8602831insC	GRCh38
NC_000012.11:g.8755426_8755427insC , CM000674.1:g.8755426_8755427insC	GRCh37
NC_000012.10:g.8646693_8646694insC	NCBI36
NG_011588.1:g.15016_15017insG , LRG_17:g.15016_15017insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.*1453_*1454insG	ENSP00000445691.1:n.*1453_*1454insG
ENST00000543081.6:c.*1496_*1497insG	ENSP00000439103.2:n.*1496_*1497insG
ENST00000545576.2:n.2451_2452insG
ENST00000696246.1:c.*1453_*1454insG	ENSP00000512504.1:n.*1453_*1454insG
ENST00000696271.1:n.2462_2463insG
ENST00000696272.1:c.*1453_*1454insG	ENSP00000512515.1:n.*1453_*1454insG
ENST00000696273.1:c.*1453_*1454insG	ENSP00000512516.1:n.*1453_*1454insG
ENST00000229335.11:c.*1453_*1454insG MANE Select	ENSP00000229335.6:n.*1453_*1454insG
ENST00000229335.10:c.*1453_*1454insG	ENSP00000229335.6:n.*1453_*1454insG
NM_020661.2:c.*1453_*1454insG , LRG_17t1:c.*1453_*1454insG	NP_065712.1:n.*1453_*1454insG
NM_001330343.1:c.*1453_*1454insG	NP_001317272.1:n.*1453_*1454insG
NM_020661.3:c.*1453_*1454insG	NP_065712.1:n.*1453_*1454insG
NM_020661.4:c.*1453_*1454insG MANE Select	NP_065712.1:n.*1453_*1454insG
NM_001330343.2:c.*1453_*1454insG	NP_001317272.1:n.*1453_*1454insG