Canonical Allele Identifier: CA1327174285

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011863_215011865delinsTTG , CM000664.2:g.215011863_215011865delinsTTG	GRCh38
NC_000002.11:g.215876587_215876589delinsTTG , CM000664.1:g.215876587_215876589delinsTTG	GRCh37
NC_000002.10:g.215584832_215584834delinsTTG	NCBI36
NG_007074.1:g.131563_131565delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+106_2121+108delinsCAA MANE Select	ENSP00000272895.7:n.2121+106_2121+108delinsCAA
ENST00000272895.11:c.2121+106_2121+108delinsCAA	ENSP00000272895.7:n.2121+106_2121+108delinsCAA
ENST00000389661.4:c.1167+106_1167+108delinsCAA	ENSP00000374312.4:n.1167+106_1167+108delinsCAA
NM_015657.3:c.1167+106_1167+108delinsCAA	NP_056472.2:n.1167+106_1167+108delinsCAA
NM_173076.2:c.2121+106_2121+108delinsCAA	NP_775099.2:n.2121+106_2121+108delinsCAA
NR_103740.1:n.2365+106_2365+108delinsCAA
XM_011510951.1:c.2121+106_2121+108delinsCAA	XP_011509253.1:n.2121+106_2121+108delinsCAA
XM_011510952.1:c.2121+106_2121+108delinsCAA	XP_011509254.1:n.2121+106_2121+108delinsCAA
XM_011510951.2:c.2121+106_2121+108delinsCAA	XP_011509253.1:n.2121+106_2121+108delinsCAA
NM_173076.3:c.2121+106_2121+108delinsCAA MANE Select	NP_775099.2:n.2121+106_2121+108delinsCAA
NR_103740.2:n.2563+106_2563+108delinsCAA
NM_015657.4:c.1167+106_1167+108delinsCAA	NP_056472.2:n.1167+106_1167+108delinsCAA