Canonical Allele Identifier: CA1327141123

Gene: ABCA12 SNHG31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932639_214932641delinsACT , CM000664.2:g.214932639_214932641delinsACT	GRCh38
NC_000002.11:g.215797363_215797365delinsACT , CM000664.1:g.215797363_215797365delinsACT	GRCh37
NC_000002.10:g.215505608_215505610delinsACT	NCBI36
NG_007074.1:g.210787_210789delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7781_7783delinsAGT (ABCA12) MANE Select	ENSP00000272895.7:p.Glu2594=
ENST00000272895.11:c.7781_7783delinsAGT (ABCA12)	ENSP00000272895.7:p.Glu2594=
ENST00000389661.4:c.6827_6829delinsAGT (ABCA12)	ENSP00000374312.4:p.Glu2276=
NM_015657.3:c.6827_6829delinsAGT (ABCA12)	NP_056472.2:p.Glu2276=
NM_173076.2:c.7781_7783delinsAGT (ABCA12)	NP_775099.2:p.Glu2594=
NR_103740.1:n.8081_8083delinsAGT (ABCA12)
NR_110292.1:n.322-15186_322-15184delinsACT (SNHG31)
XM_011510951.1:c.7790_7792delinsAGT (ABCA12)	XP_011509253.1:p.Glu2597=
XM_011510951.2:c.7790_7792delinsAGT (ABCA12)	XP_011509253.1:p.Glu2597=
NM_173076.3:c.7781_7783delinsAGT (ABCA12) MANE Select	NP_775099.2:p.Glu2594=
NR_103740.2:n.8279_8281delinsAGT (ABCA12)
NM_015657.4:c.6827_6829delinsAGT (ABCA12)	NP_056472.2:p.Glu2276=