Canonical Allele Identifier: CA1327174296

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011878_215011881delinsTCAA , CM000664.2:g.215011878_215011881delinsTCAA	GRCh38
NC_000002.11:g.215876602_215876605delinsTCAA , CM000664.1:g.215876602_215876605delinsTCAA	GRCh37
NC_000002.10:g.215584847_215584850delinsTCAA	NCBI36
NG_007074.1:g.131547_131550delinsTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+90_2121+93delinsTTGA MANE Select	ENSP00000272895.7:n.2121+90_2121+93delinsTTGA
ENST00000272895.11:c.2121+90_2121+93delinsTTGA	ENSP00000272895.7:n.2121+90_2121+93delinsTTGA
ENST00000389661.4:c.1167+90_1167+93delinsTTGA	ENSP00000374312.4:n.1167+90_1167+93delinsTTGA
NM_015657.3:c.1167+90_1167+93delinsTTGA	NP_056472.2:n.1167+90_1167+93delinsTTGA
NM_173076.2:c.2121+90_2121+93delinsTTGA	NP_775099.2:n.2121+90_2121+93delinsTTGA
NR_103740.1:n.2365+90_2365+93delinsTTGA
XM_011510951.1:c.2121+90_2121+93delinsTTGA	XP_011509253.1:n.2121+90_2121+93delinsTTGA
XM_011510952.1:c.2121+90_2121+93delinsTTGA	XP_011509254.1:n.2121+90_2121+93delinsTTGA
XM_011510951.2:c.2121+90_2121+93delinsTTGA	XP_011509253.1:n.2121+90_2121+93delinsTTGA
NM_173076.3:c.2121+90_2121+93delinsTTGA MANE Select	NP_775099.2:n.2121+90_2121+93delinsTTGA
NR_103740.2:n.2563+90_2563+93delinsTTGA
NM_015657.4:c.1167+90_1167+93delinsTTGA	NP_056472.2:n.1167+90_1167+93delinsTTGA