Canonical Allele Identifier: CA2754210394

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011829dup , CM000664.2:g.215011829dup	GRCh38
NC_000002.11:g.215876553dup , CM000664.1:g.215876553dup	GRCh37
NC_000002.10:g.215584798dup	NCBI36
NG_007074.1:g.131603dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+146dup MANE Select	ENSP00000272895.7:n.2121+146dup
ENST00000272895.11:c.2121+146dup	ENSP00000272895.7:n.2121+146dup
ENST00000389661.4:c.1167+146dup	ENSP00000374312.4:n.1167+146dup
NM_015657.3:c.1167+146dup	NP_056472.2:n.1167+146dup
NM_173076.2:c.2121+146dup	NP_775099.2:n.2121+146dup
NR_103740.1:n.2365+146dup
XM_011510951.1:c.2121+146dup	XP_011509253.1:n.2121+146dup
XM_011510952.1:c.2121+146dup	XP_011509254.1:n.2121+146dup
XM_011510951.2:c.2121+146dup	XP_011509253.1:n.2121+146dup
NM_173076.3:c.2121+146dup MANE Select	NP_775099.2:n.2121+146dup
NR_103740.2:n.2563+146dup
NM_015657.4:c.1167+146dup	NP_056472.2:n.1167+146dup