Canonical Allele Identifier: CA2662980329

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011518-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011520del , CM000664.2:g.215011520del	GRCh38
NC_000002.11:g.215876244del , CM000664.1:g.215876244del	GRCh37
NC_000002.10:g.215584489del	NCBI36
NG_007074.1:g.131909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2252del MANE Select	ENSP00000272895.7:p.Gly751AlafsTer8
ENST00000272895.11:c.2252del	ENSP00000272895.7:p.Gly751AlafsTer8
ENST00000389661.4:c.1298del	ENSP00000374312.4:p.Gly433AlafsTer8
NM_015657.3:c.1298del	NP_056472.2:p.Gly433AlafsTer8
NM_173076.2:c.2252del	NP_775099.2:p.Gly751AlafsTer8
NR_103740.1:n.2496del
XM_011510951.1:c.2252del	XP_011509253.1:p.Gly751AlafsTer8
XM_011510952.1:c.2252del	XP_011509254.1:p.Gly751AlafsTer8
XM_011510951.2:c.2252del	XP_011509253.1:p.Gly751AlafsTer8
NM_173076.3:c.2252del MANE Select	NP_775099.2:p.Gly751AlafsTer8
NR_103740.2:n.2694del
NM_015657.4:c.1298del	NP_056472.2:p.Gly433AlafsTer8