Canonical Allele Identifier: CA2972158146

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980521dup , CM000664.2:g.214980521dup	GRCh38
NC_000002.11:g.215845245dup , CM000664.1:g.215845245dup	GRCh37
NC_000002.10:g.215553490dup	NCBI36
NG_007074.1:g.162909dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4704dup MANE Select	ENSP00000272895.7:p.Gly1569TrpfsTer23
ENST00000272895.11:c.4704dup	ENSP00000272895.7:p.Gly1569TrpfsTer23
ENST00000389661.4:c.3750dup	ENSP00000374312.4:p.Gly1251TrpfsTer23
NM_015657.3:c.3750dup	NP_056472.2:p.Gly1251TrpfsTer23
NM_173076.2:c.4704dup	NP_775099.2:p.Gly1569TrpfsTer23
NR_103740.1:n.5004dup
XM_011510951.1:c.4713dup	XP_011509253.1:p.Gly1572TrpfsTer23
XM_011510952.1:c.4713dup	XP_011509254.1:p.Gly1572TrpfsTer23
XM_011510951.2:c.4713dup	XP_011509253.1:p.Gly1572TrpfsTer23
NM_173076.3:c.4704dup MANE Select	NP_775099.2:p.Gly1569TrpfsTer23
NR_103740.2:n.5202dup
NM_015657.4:c.3750dup	NP_056472.2:p.Gly1251TrpfsTer23