Canonical Allele Identifier: CA2586971262

Gene: ABCA12 SNHG31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214945028_214945032dup , CM000664.2:g.214945028_214945032dup	GRCh38
NC_000002.11:g.215809752_215809756dup , CM000664.1:g.215809752_215809756dup	GRCh37
NC_000002.10:g.215517997_215518001dup	NCBI36
NG_007074.1:g.198397_198401dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7313_7317dup (ABCA12) MANE Select	ENSP00000272895.7:p.Cys2440ThrfsTer26
ENST00000272895.11:c.7313_7317dup (ABCA12)	ENSP00000272895.7:p.Cys2440ThrfsTer26
ENST00000389661.4:c.6359_6363dup (ABCA12)	ENSP00000374312.4:p.Cys2122ThrfsTer26
NM_015657.3:c.6359_6363dup (ABCA12)	NP_056472.2:p.Cys2122ThrfsTer26
NM_173076.2:c.7313_7317dup (ABCA12)	NP_775099.2:p.Cys2440ThrfsTer26
NR_103740.1:n.7613_7617dup (ABCA12)
NR_110292.1:n.322-2797_322-2793dup (SNHG31)
XM_011510951.1:c.7322_7326dup (ABCA12)	XP_011509253.1:p.Cys2443ThrfsTer26
XM_011510951.2:c.7322_7326dup (ABCA12)	XP_011509253.1:p.Cys2443ThrfsTer26
NM_173076.3:c.7313_7317dup (ABCA12) MANE Select	NP_775099.2:p.Cys2440ThrfsTer26
NR_103740.2:n.7811_7815dup (ABCA12)
NM_015657.4:c.6359_6363dup (ABCA12)	NP_056472.2:p.Cys2122ThrfsTer26