Canonical Allele Identifier: CA2662982078

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019588-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019589dup , CM000664.2:g.215019589dup	GRCh38
NC_000002.11:g.215884313dup , CM000664.1:g.215884313dup	GRCh37
NC_000002.10:g.215592558dup	NCBI36
NG_007074.1:g.123839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1495dup MANE Select	ENSP00000272895.7:p.Arg499LysfsTer12
ENST00000272895.11:c.1495dup	ENSP00000272895.7:p.Arg499LysfsTer12
ENST00000389661.4:c.541dup	ENSP00000374312.4:p.Arg181LysfsTer12
NM_015657.3:c.541dup	NP_056472.2:p.Arg181LysfsTer12
NM_173076.2:c.1495dup	NP_775099.2:p.Arg499LysfsTer12
NR_103740.1:n.1739dup
XM_011510951.1:c.1495dup	XP_011509253.1:p.Arg499LysfsTer12
XM_011510952.1:c.1495dup	XP_011509254.1:p.Arg499LysfsTer12
XM_011510951.2:c.1495dup	XP_011509253.1:p.Arg499LysfsTer12
NM_173076.3:c.1495dup MANE Select	NP_775099.2:p.Arg499LysfsTer12
NR_103740.2:n.1937dup
NM_015657.4:c.541dup	NP_056472.2:p.Arg181LysfsTer12