Canonical Allele Identifier: CA764554243

Gene: ABCA12

Linked Data

• dbSNP Id: rs1325811970
• gnomAD v3: 2-215011844-AAG-A
• gnomAD v4: 2-215011844-AAG-A
• MyVariant Identifiers: chr2:g.215876569_215876570del (hg19) ; chr2:g.215011845_215011846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011847_215011848del , CM000664.2:g.215011847_215011848del	GRCh38
NC_000002.11:g.215876571_215876572del , CM000664.1:g.215876571_215876572del	GRCh37
NC_000002.10:g.215584816_215584817del	NCBI36
NG_007074.1:g.131582_131583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+125_2121+126del MANE Select	ENSP00000272895.7:n.2121+125_2121+126del
ENST00000272895.11:c.2121+125_2121+126del	ENSP00000272895.7:n.2121+125_2121+126del
ENST00000389661.4:c.1167+125_1167+126del	ENSP00000374312.4:n.1167+125_1167+126del
NM_015657.3:c.1167+125_1167+126del	NP_056472.2:n.1167+125_1167+126del
NM_173076.2:c.2121+125_2121+126del	NP_775099.2:n.2121+125_2121+126del
NR_103740.1:n.2365+125_2365+126del
XM_011510951.1:c.2121+125_2121+126del	XP_011509253.1:n.2121+125_2121+126del
XM_011510952.1:c.2121+125_2121+126del	XP_011509254.1:n.2121+125_2121+126del
XM_011510951.2:c.2121+125_2121+126del	XP_011509253.1:n.2121+125_2121+126del
NM_173076.3:c.2121+125_2121+126del MANE Select	NP_775099.2:n.2121+125_2121+126del
NR_103740.2:n.2563+125_2563+126del
NM_015657.4:c.1167+125_1167+126del	NP_056472.2:n.1167+125_1167+126del