Canonical Allele Identifier: CA1327174277

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011844_215011846delinsAAG , CM000664.2:g.215011844_215011846delinsAAG	GRCh38
NC_000002.11:g.215876568_215876570delinsAAG , CM000664.1:g.215876568_215876570delinsAAG	GRCh37
NC_000002.10:g.215584813_215584815delinsAAG	NCBI36
NG_007074.1:g.131582_131584delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+125_2121+127delinsCTT MANE Select	ENSP00000272895.7:n.2121+125_2121+127delinsCTT
ENST00000272895.11:c.2121+125_2121+127delinsCTT	ENSP00000272895.7:n.2121+125_2121+127delinsCTT
ENST00000389661.4:c.1167+125_1167+127delinsCTT	ENSP00000374312.4:n.1167+125_1167+127delinsCTT
NM_015657.3:c.1167+125_1167+127delinsCTT	NP_056472.2:n.1167+125_1167+127delinsCTT
NM_173076.2:c.2121+125_2121+127delinsCTT	NP_775099.2:n.2121+125_2121+127delinsCTT
NR_103740.1:n.2365+125_2365+127delinsCTT
XM_011510951.1:c.2121+125_2121+127delinsCTT	XP_011509253.1:n.2121+125_2121+127delinsCTT
XM_011510952.1:c.2121+125_2121+127delinsCTT	XP_011509254.1:n.2121+125_2121+127delinsCTT
XM_011510951.2:c.2121+125_2121+127delinsCTT	XP_011509253.1:n.2121+125_2121+127delinsCTT
NM_173076.3:c.2121+125_2121+127delinsCTT MANE Select	NP_775099.2:n.2121+125_2121+127delinsCTT
NR_103740.2:n.2563+125_2563+127delinsCTT
NM_015657.4:c.1167+125_1167+127delinsCTT	NP_056472.2:n.1167+125_1167+127delinsCTT