Canonical Allele Identifier: CA539536376

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978438dup , CM000664.2:g.214978438dup	GRCh38
NC_000002.11:g.215843162dup , CM000664.1:g.215843162dup	GRCh37
NC_000002.10:g.215551407dup	NCBI36
NG_007074.1:g.164996dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.5012dup MANE Select	ENSP00000272895.7:p.Asn1671LysfsTer2
ENST00000272895.11:c.5012dup	ENSP00000272895.7:p.Asn1671LysfsTer2
ENST00000389661.4:c.4058dup	ENSP00000374312.4:p.Asn1353LysfsTer2
NM_015657.3:c.4058dup	NP_056472.2:p.Asn1353LysfsTer2
NM_173076.2:c.5012dup	NP_775099.2:p.Asn1671LysfsTer2
NR_103740.1:n.5312dup
XM_011510951.1:c.5021dup	XP_011509253.1:p.Asn1674LysfsTer2
XM_011510952.1:c.5021dup	XP_011509254.1:p.Asn1674LysfsTer2
XM_011510951.2:c.5021dup	XP_011509253.1:p.Asn1674LysfsTer2
NM_173076.3:c.5012dup MANE Select	NP_775099.2:p.Asn1671LysfsTer2
NR_103740.2:n.5510dup
NM_015657.4:c.4058dup	NP_056472.2:p.Asn1353LysfsTer2