Canonical Allele Identifier: CA2662978895

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214990884-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990885del , CM000664.2:g.214990885del	GRCh38
NC_000002.11:g.215855609del , CM000664.1:g.215855609del	GRCh37
NC_000002.10:g.215563854del	NCBI36
NG_007074.1:g.152543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3441del MANE Select	ENSP00000272895.7:p.Leu1147PhefsTer15
ENST00000272895.11:c.3441del	ENSP00000272895.7:p.Leu1147PhefsTer15
ENST00000389661.4:c.2487del	ENSP00000374312.4:p.Leu829PhefsTer15
NM_015657.3:c.2487del	NP_056472.2:p.Leu829PhefsTer15
NM_173076.2:c.3441del	NP_775099.2:p.Leu1147PhefsTer15
NR_103740.1:n.3741del
XM_011510951.1:c.3441del	XP_011509253.1:p.Leu1147PhefsTer15
XM_011510952.1:c.3441del	XP_011509254.1:p.Leu1147PhefsTer15
XM_011510951.2:c.3441del	XP_011509253.1:p.Leu1147PhefsTer15
NM_173076.3:c.3441del MANE Select	NP_775099.2:p.Leu1147PhefsTer15
NR_103740.2:n.3939del
NM_015657.4:c.2487del	NP_056472.2:p.Leu829PhefsTer15