Canonical Allele Identifier: CA2662980261

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011382-A-ACAGTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011384_215011390dup , CM000664.2:g.215011384_215011390dup	GRCh38
NC_000002.11:g.215876108_215876114dup , CM000664.1:g.215876108_215876114dup	GRCh37
NC_000002.10:g.215584353_215584359dup	NCBI36
NG_007074.1:g.132039_132045dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2332+50_2332+56dup MANE Select	ENSP00000272895.7:n.2332+50_2332+56dup
ENST00000272895.11:c.2332+50_2332+56dup	ENSP00000272895.7:n.2332+50_2332+56dup
ENST00000389661.4:c.1378+50_1378+56dup	ENSP00000374312.4:n.1378+50_1378+56dup
NM_015657.3:c.1378+50_1378+56dup	NP_056472.2:n.1378+50_1378+56dup
NM_173076.2:c.2332+50_2332+56dup	NP_775099.2:n.2332+50_2332+56dup
NR_103740.1:n.2576+50_2576+56dup
XM_011510951.1:c.2332+50_2332+56dup	XP_011509253.1:n.2332+50_2332+56dup
XM_011510952.1:c.2332+50_2332+56dup	XP_011509254.1:n.2332+50_2332+56dup
XM_011510951.2:c.2332+50_2332+56dup	XP_011509253.1:n.2332+50_2332+56dup
NM_173076.3:c.2332+50_2332+56dup MANE Select	NP_775099.2:n.2332+50_2332+56dup
NR_103740.2:n.2774+50_2774+56dup
NM_015657.4:c.1378+50_1378+56dup	NP_056472.2:n.1378+50_1378+56dup