Canonical Allele Identifier: CA2662980245

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011359-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011360del , CM000664.2:g.215011360del	GRCh38
NC_000002.11:g.215876084del , CM000664.1:g.215876084del	GRCh37
NC_000002.10:g.215584329del	NCBI36
NG_007074.1:g.132068del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2332+79del MANE Select	ENSP00000272895.7:n.2332+79del
ENST00000272895.11:c.2332+79del	ENSP00000272895.7:n.2332+79del
ENST00000389661.4:c.1378+79del	ENSP00000374312.4:n.1378+79del
NM_015657.3:c.1378+79del	NP_056472.2:n.1378+79del
NM_173076.2:c.2332+79del	NP_775099.2:n.2332+79del
NR_103740.1:n.2576+79del
XM_011510951.1:c.2332+79del	XP_011509253.1:n.2332+79del
XM_011510952.1:c.2332+79del	XP_011509254.1:n.2332+79del
XM_011510951.2:c.2332+79del	XP_011509253.1:n.2332+79del
NM_173076.3:c.2332+79del MANE Select	NP_775099.2:n.2332+79del
NR_103740.2:n.2774+79del
NM_015657.4:c.1378+79del	NP_056472.2:n.1378+79del