Canonical Allele Identifier: CA764596267

Gene: ABCA12

Linked Data

• dbSNP Id: rs1303259404
• gnomAD v3: 2-214978717-A-AT
• gnomAD v4: 2-214978717-A-AT
• MyVariant Identifiers: chr2:g.215843441_215843442insT (hg19) ; chr2:g.214978717_214978718insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978724dup , CM000664.2:g.214978724dup	GRCh38
NC_000002.11:g.215843448dup , CM000664.1:g.215843448dup	GRCh37
NC_000002.10:g.215551693dup	NCBI36
NG_007074.1:g.164710dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4977+86dup MANE Select	ENSP00000272895.7:n.4977+86dup
ENST00000272895.11:c.4977+86dup	ENSP00000272895.7:n.4977+86dup
ENST00000389661.4:c.4023+86dup	ENSP00000374312.4:n.4023+86dup
NM_015657.3:c.4023+86dup	NP_056472.2:n.4023+86dup
NM_173076.2:c.4977+86dup	NP_775099.2:n.4977+86dup
NR_103740.1:n.5277+86dup
XM_011510951.1:c.4986+86dup	XP_011509253.1:n.4986+86dup
XM_011510952.1:c.4986+86dup	XP_011509254.1:n.4986+86dup
XM_011510951.2:c.4986+86dup	XP_011509253.1:n.4986+86dup
NM_173076.3:c.4977+86dup MANE Select	NP_775099.2:n.4977+86dup
NR_103740.2:n.5475+86dup
NM_015657.4:c.4023+86dup	NP_056472.2:n.4023+86dup