Canonical Allele Identifier: CA1042213959

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011886_215011890del , CM000664.2:g.215011886_215011890del	GRCh38
NC_000002.11:g.215876610_215876614del , CM000664.1:g.215876610_215876614del	GRCh37
NC_000002.10:g.215584855_215584859del	NCBI36
NG_007074.1:g.131538_131542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+81_2121+85del MANE Select	ENSP00000272895.7:n.2121+81_2121+85del
ENST00000272895.11:c.2121+81_2121+85del	ENSP00000272895.7:n.2121+81_2121+85del
ENST00000389661.4:c.1167+81_1167+85del	ENSP00000374312.4:n.1167+81_1167+85del
NM_015657.3:c.1167+81_1167+85del	NP_056472.2:n.1167+81_1167+85del
NM_173076.2:c.2121+81_2121+85del	NP_775099.2:n.2121+81_2121+85del
NR_103740.1:n.2365+81_2365+85del
XM_011510951.1:c.2121+81_2121+85del	XP_011509253.1:n.2121+81_2121+85del
XM_011510952.1:c.2121+81_2121+85del	XP_011509254.1:n.2121+81_2121+85del
XM_011510951.2:c.2121+81_2121+85del	XP_011509253.1:n.2121+81_2121+85del
NM_173076.3:c.2121+81_2121+85del MANE Select	NP_775099.2:n.2121+81_2121+85del
NR_103740.2:n.2563+81_2563+85del
NM_015657.4:c.1167+81_1167+85del	NP_056472.2:n.1167+81_1167+85del