Canonical Allele Identifier: CA2662978483

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980663-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980664del , CM000664.2:g.214980664del	GRCh38
NC_000002.11:g.215845388del , CM000664.1:g.215845388del	GRCh37
NC_000002.10:g.215553633del	NCBI36
NG_007074.1:g.162764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4580-21del MANE Select	ENSP00000272895.7:n.4580-21del
ENST00000272895.11:c.4580-21del	ENSP00000272895.7:n.4580-21del
ENST00000389661.4:c.3626-21del	ENSP00000374312.4:n.3626-21del
NM_015657.3:c.3626-21del	NP_056472.2:n.3626-21del
NM_173076.2:c.4580-21del	NP_775099.2:n.4580-21del
NR_103740.1:n.4880-21del
XM_011510951.1:c.4589-21del	XP_011509253.1:n.4589-21del
XM_011510952.1:c.4589-21del	XP_011509254.1:n.4589-21del
XM_011510951.2:c.4589-21del	XP_011509253.1:n.4589-21del
NM_173076.3:c.4580-21del MANE Select	NP_775099.2:n.4580-21del
NR_103740.2:n.5078-21del
NM_015657.4:c.3626-21del	NP_056472.2:n.3626-21del