Canonical Allele Identifier: CA1042213914

Gene: ABCA12

Linked Data

• dbSNP Id: rs539808382

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011872_215011878dup , CM000664.2:g.215011872_215011878dup	GRCh38
NC_000002.11:g.215876596_215876602dup , CM000664.1:g.215876596_215876602dup	GRCh37
NC_000002.10:g.215584841_215584847dup	NCBI36
NG_007074.1:g.131556_131562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+99_2121+105dup MANE Select	ENSP00000272895.7:n.2121+99_2121+105dup
ENST00000272895.11:c.2121+99_2121+105dup	ENSP00000272895.7:n.2121+99_2121+105dup
ENST00000389661.4:c.1167+99_1167+105dup	ENSP00000374312.4:n.1167+99_1167+105dup
NM_015657.3:c.1167+99_1167+105dup	NP_056472.2:n.1167+99_1167+105dup
NM_173076.2:c.2121+99_2121+105dup	NP_775099.2:n.2121+99_2121+105dup
NR_103740.1:n.2365+99_2365+105dup
XM_011510951.1:c.2121+99_2121+105dup	XP_011509253.1:n.2121+99_2121+105dup
XM_011510952.1:c.2121+99_2121+105dup	XP_011509254.1:n.2121+99_2121+105dup
XM_011510951.2:c.2121+99_2121+105dup	XP_011509253.1:n.2121+99_2121+105dup
NM_173076.3:c.2121+99_2121+105dup MANE Select	NP_775099.2:n.2121+99_2121+105dup
NR_103740.2:n.2563+99_2563+105dup
NM_015657.4:c.1167+99_1167+105dup	NP_056472.2:n.1167+99_1167+105dup