Canonical Allele Identifier: CA2662980256

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011374-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011376_215011377del , CM000664.2:g.215011376_215011377del	GRCh38
NC_000002.11:g.215876100_215876101del , CM000664.1:g.215876100_215876101del	GRCh37
NC_000002.10:g.215584345_215584346del	NCBI36
NG_007074.1:g.132052_132053del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2332+63_2332+64del MANE Select	ENSP00000272895.7:n.2332+63_2332+64del
ENST00000272895.11:c.2332+63_2332+64del	ENSP00000272895.7:n.2332+63_2332+64del
ENST00000389661.4:c.1378+63_1378+64del	ENSP00000374312.4:n.1378+63_1378+64del
NM_015657.3:c.1378+63_1378+64del	NP_056472.2:n.1378+63_1378+64del
NM_173076.2:c.2332+63_2332+64del	NP_775099.2:n.2332+63_2332+64del
NR_103740.1:n.2576+63_2576+64del
XM_011510951.1:c.2332+63_2332+64del	XP_011509253.1:n.2332+63_2332+64del
XM_011510952.1:c.2332+63_2332+64del	XP_011509254.1:n.2332+63_2332+64del
XM_011510951.2:c.2332+63_2332+64del	XP_011509253.1:n.2332+63_2332+64del
NM_173076.3:c.2332+63_2332+64del MANE Select	NP_775099.2:n.2332+63_2332+64del
NR_103740.2:n.2774+63_2774+64del
NM_015657.4:c.1378+63_1378+64del	NP_056472.2:n.1378+63_1378+64del