Canonical Allele Identifier: CA2506758453

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011501_215011503del , CM000664.2:g.215011501_215011503del	GRCh38
NC_000002.11:g.215876225_215876227del , CM000664.1:g.215876225_215876227del	GRCh37
NC_000002.10:g.215584470_215584472del	NCBI36
NG_007074.1:g.131928_131930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2271_2273del MANE Select	ENSP00000272895.7:p.Phe757del
ENST00000272895.11:c.2271_2273del	ENSP00000272895.7:p.Phe757del
ENST00000389661.4:c.1317_1319del	ENSP00000374312.4:p.Phe439del
NM_015657.3:c.1317_1319del	NP_056472.2:p.Phe439del
NM_173076.2:c.2271_2273del	NP_775099.2:p.Phe757del
NR_103740.1:n.2515_2517del
XM_011510951.1:c.2271_2273del	XP_011509253.1:p.Phe757del
XM_011510952.1:c.2271_2273del	XP_011509254.1:p.Phe757del
XM_011510951.2:c.2271_2273del	XP_011509253.1:p.Phe757del
NM_173076.3:c.2271_2273del MANE Select	NP_775099.2:p.Phe757del
NR_103740.2:n.2713_2715del
NM_015657.4:c.1317_1319del	NP_056472.2:p.Phe439del