Canonical Allele Identifier: CA2972373707

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011878_215011879insA , CM000664.2:g.215011878_215011879insA	GRCh38
NC_000002.11:g.215876602_215876603insA , CM000664.1:g.215876602_215876603insA	GRCh37
NC_000002.10:g.215584847_215584848insA	NCBI36
NG_007074.1:g.131549_131550insT

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.2121+92_2121+93insT MANE Select	NP_775099.2:n.2121+92_2121+93insT
ENST00000272895.12:c.2121+92_2121+93insT MANE Select	ENSP00000272895.7:n.2121+92_2121+93insT
NM_015657.3:c.1167+92_1167+93insT	NP_056472.2:n.1167+92_1167+93insT
NM_015657.4:c.1167+92_1167+93insT	NP_056472.2:n.1167+92_1167+93insT
NM_173076.2:c.2121+92_2121+93insT	NP_775099.2:n.2121+92_2121+93insT
NR_103740.1:n.2365+92_2365+93insT
NR_103740.2:n.2563+92_2563+93insT
ENST00000272895.11:c.2121+92_2121+93insT	ENSP00000272895.7:n.2121+92_2121+93insT
ENST00000389661.4:c.1167+92_1167+93insT	ENSP00000374312.4:n.1167+92_1167+93insT
XM_011510951.1:c.2121+92_2121+93insT	XP_011509253.1:n.2121+92_2121+93insT
XM_011510951.2:c.2121+92_2121+93insT	XP_011509253.1:n.2121+92_2121+93insT
XM_011510952.1:c.2121+92_2121+93insT	XP_011509254.1:n.2121+92_2121+93insT