Canonical Allele Identifier: CA2972373676

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011451dup , CM000664.2:g.215011451dup	GRCh38
NC_000002.11:g.215876175dup , CM000664.1:g.215876175dup	GRCh37
NC_000002.10:g.215584420dup	NCBI36
NG_007074.1:g.131979dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2322dup MANE Select	ENSP00000272895.7:p.Ile775HisfsTer12
ENST00000272895.11:c.2322dup	ENSP00000272895.7:p.Ile775HisfsTer12
ENST00000389661.4:c.1368dup	ENSP00000374312.4:p.Ile457HisfsTer12
NM_015657.3:c.1368dup	NP_056472.2:p.Ile457HisfsTer12
NM_173076.2:c.2322dup	NP_775099.2:p.Ile775HisfsTer12
NR_103740.1:n.2566dup
XM_011510951.1:c.2322dup	XP_011509253.1:p.Ile775HisfsTer12
XM_011510952.1:c.2322dup	XP_011509254.1:p.Ile775HisfsTer12
XM_011510951.2:c.2322dup	XP_011509253.1:p.Ile775HisfsTer12
NM_173076.3:c.2322dup MANE Select	NP_775099.2:p.Ile775HisfsTer12
NR_103740.2:n.2764dup
NM_015657.4:c.1368dup	NP_056472.2:p.Ile457HisfsTer12