Canonical Allele Identifier: CA2568012903

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019515_215019526del , CM000664.2:g.215019515_215019526del	GRCh38
NC_000002.11:g.215884239_215884250del , CM000664.1:g.215884239_215884250del	GRCh37
NC_000002.10:g.215592484_215592495del	NCBI36
NG_007074.1:g.123905_123916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+17_1544+28del MANE Select	ENSP00000272895.7:n.1544+17_1544+28del
ENST00000272895.11:c.1544+17_1544+28del	ENSP00000272895.7:n.1544+17_1544+28del
ENST00000389661.4:c.590+17_590+28del	ENSP00000374312.4:n.590+17_590+28del
NM_015657.3:c.590+17_590+28del	NP_056472.2:n.590+17_590+28del
NM_173076.2:c.1544+17_1544+28del	NP_775099.2:n.1544+17_1544+28del
NR_103740.1:n.1788+17_1788+28del
XM_011510951.1:c.1544+17_1544+28del	XP_011509253.1:n.1544+17_1544+28del
XM_011510952.1:c.1544+17_1544+28del	XP_011509254.1:n.1544+17_1544+28del
XM_011510951.2:c.1544+17_1544+28del	XP_011509253.1:n.1544+17_1544+28del
NM_173076.3:c.1544+17_1544+28del MANE Select	NP_775099.2:n.1544+17_1544+28del
NR_103740.2:n.1986+17_1986+28del
NM_015657.4:c.590+17_590+28del	NP_056472.2:n.590+17_590+28del