Canonical Allele Identifier: CA2754209705

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990917_214990918insCTC , CM000664.2:g.214990917_214990918insCTC	GRCh38
NC_000002.11:g.215855641_215855642insCTC , CM000664.1:g.215855641_215855642insCTC	GRCh37
NC_000002.10:g.215563886_215563887insCTC	NCBI36
NG_007074.1:g.152510_152511insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3408_3409insGAG MANE Select	ENSP00000272895.7:p.Gly1136_Asn1137insGlu
ENST00000272895.11:c.3408_3409insGAG	ENSP00000272895.7:p.Gly1136_Asn1137insGlu
ENST00000389661.4:c.2454_2455insGAG	ENSP00000374312.4:p.Gly818_Asn819insGlu
NM_015657.3:c.2454_2455insGAG	NP_056472.2:p.Gly818_Asn819insGlu
NM_173076.2:c.3408_3409insGAG	NP_775099.2:p.Gly1136_Asn1137insGlu
NR_103740.1:n.3708_3709insGAG
XM_011510951.1:c.3408_3409insGAG	XP_011509253.1:p.Gly1136_Asn1137insGlu
XM_011510952.1:c.3408_3409insGAG	XP_011509254.1:p.Gly1136_Asn1137insGlu
XM_011510951.2:c.3408_3409insGAG	XP_011509253.1:p.Gly1136_Asn1137insGlu
NM_173076.3:c.3408_3409insGAG MANE Select	NP_775099.2:p.Gly1136_Asn1137insGlu
NR_103740.2:n.3906_3907insGAG
NM_015657.4:c.2454_2455insGAG	NP_056472.2:p.Gly818_Asn819insGlu