Canonical Allele Identifier: CA603209628

Gene: AICDA

Linked Data

• dbSNP Id: rs1264443155
• gnomAD v2: 12-8757211-G-GA
• gnomAD v3: 12-8604615-G-GA
• gnomAD v4: 12-8604615-G-GA
• MyVariant Identifiers: chr12:g.8757211_8757212insA (hg19) ; chr12:g.8604615_8604616insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8604619dup , CM000674.2:g.8604619dup	GRCh38
NC_000012.11:g.8757215dup , CM000674.1:g.8757215dup	GRCh37
NC_000012.10:g.8648482dup	NCBI36
NG_011588.1:g.13231dup , LRG_17:g.13231dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.513+191dup	ENSP00000445691.1:n.513+191dup
ENST00000543081.6:c.428-279dup	ENSP00000439103.2:n.428-279dup
ENST00000544516.6:c.157-279dup	ENSP00000439538.2:n.157-279dup
ENST00000545576.2:n.944+191dup
ENST00000696246.1:c.498+191dup	ENSP00000512504.1:n.498+191dup
ENST00000696271.1:n.955+191dup
ENST00000696272.1:c.528+191dup	ENSP00000512515.1:n.528+191dup
ENST00000696273.1:c.576+191dup	ENSP00000512516.1:n.576+191dup
ENST00000229335.11:c.543+191dup MANE Select	ENSP00000229335.6:n.543+191dup
ENST00000229335.10:c.543+191dup	ENSP00000229335.6:n.543+191dup
ENST00000537228.5:c.513+191dup	ENSP00000445691.1:n.513+191dup
ENST00000543081.5:c.424-279dup
ENST00000544516.5:c.153-279dup
ENST00000545512.1:c.539+191dup
ENST00000545576.1:n.869+191dup
NM_020661.2:c.543+191dup , LRG_17t1:c.543+191dup	NP_065712.1:n.543+191dup
XM_011520772.1:c.513+191dup	XP_011519074.1:n.513+191dup
XM_011520773.1:c.428-279dup	XP_011519075.1:n.428-279dup
NM_001330343.1:c.513+191dup	NP_001317272.1:n.513+191dup
NM_020661.3:c.543+191dup	NP_065712.1:n.543+191dup
XM_011520773.2:c.428-279dup	XP_011519075.1:n.428-279dup
NM_020661.4:c.543+191dup MANE Select	NP_065712.1:n.543+191dup
NM_001330343.2:c.513+191dup	NP_001317272.1:n.513+191dup