Canonical Allele Identifier: CA2586971327

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011519_215011520delinsA , CM000664.2:g.215011519_215011520delinsA	GRCh38
NC_000002.11:g.215876243_215876244delinsA , CM000664.1:g.215876243_215876244delinsA	GRCh37
NC_000002.10:g.215584488_215584489delinsA	NCBI36
NG_007074.1:g.131908_131909delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2251_2252delinsT MANE Select	ENSP00000272895.7:p.Gly751SerfsTer8
ENST00000272895.11:c.2251_2252delinsT	ENSP00000272895.7:p.Gly751SerfsTer8
ENST00000389661.4:c.1297_1298delinsT	ENSP00000374312.4:p.Gly433SerfsTer8
NM_015657.3:c.1297_1298delinsT	NP_056472.2:p.Gly433SerfsTer8
NM_173076.2:c.2251_2252delinsT	NP_775099.2:p.Gly751SerfsTer8
NR_103740.1:n.2495_2496delinsT
XM_011510951.1:c.2251_2252delinsT	XP_011509253.1:p.Gly751SerfsTer8
XM_011510952.1:c.2251_2252delinsT	XP_011509254.1:p.Gly751SerfsTer8
XM_011510951.2:c.2251_2252delinsT	XP_011509253.1:p.Gly751SerfsTer8
NM_173076.3:c.2251_2252delinsT MANE Select	NP_775099.2:p.Gly751SerfsTer8
NR_103740.2:n.2693_2694delinsT
NM_015657.4:c.1297_1298delinsT	NP_056472.2:p.Gly433SerfsTer8