Canonical Allele Identifier: CA2586971326

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011496dup , CM000664.2:g.215011496dup	GRCh38
NC_000002.11:g.215876220dup , CM000664.1:g.215876220dup	GRCh37
NC_000002.10:g.215584465dup	NCBI36
NG_007074.1:g.131932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2275dup MANE Select	ENSP00000272895.7:p.Thr759AsnfsTer3
ENST00000272895.11:c.2275dup	ENSP00000272895.7:p.Thr759AsnfsTer3
ENST00000389661.4:c.1321dup	ENSP00000374312.4:p.Thr441AsnfsTer3
NM_015657.3:c.1321dup	NP_056472.2:p.Thr441AsnfsTer3
NM_173076.2:c.2275dup	NP_775099.2:p.Thr759AsnfsTer3
NR_103740.1:n.2519dup
XM_011510951.1:c.2275dup	XP_011509253.1:p.Thr759AsnfsTer3
XM_011510952.1:c.2275dup	XP_011509254.1:p.Thr759AsnfsTer3
XM_011510951.2:c.2275dup	XP_011509253.1:p.Thr759AsnfsTer3
NM_173076.3:c.2275dup MANE Select	NP_775099.2:p.Thr759AsnfsTer3
NR_103740.2:n.2717dup
NM_015657.4:c.1321dup	NP_056472.2:p.Thr441AsnfsTer3