Canonical Allele Identifier: CA1327174263

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011824_215011825delinsCA , CM000664.2:g.215011824_215011825delinsCA	GRCh38
NC_000002.11:g.215876548_215876549delinsCA , CM000664.1:g.215876548_215876549delinsCA	GRCh37
NC_000002.10:g.215584793_215584794delinsCA	NCBI36
NG_007074.1:g.131603_131604delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+146_2121+147delinsTG MANE Select	ENSP00000272895.7:n.2121+146_2121+147delinsTG
ENST00000272895.11:c.2121+146_2121+147delinsTG	ENSP00000272895.7:n.2121+146_2121+147delinsTG
ENST00000389661.4:c.1167+146_1167+147delinsTG	ENSP00000374312.4:n.1167+146_1167+147delinsTG
NM_015657.3:c.1167+146_1167+147delinsTG	NP_056472.2:n.1167+146_1167+147delinsTG
NM_173076.2:c.2121+146_2121+147delinsTG	NP_775099.2:n.2121+146_2121+147delinsTG
NR_103740.1:n.2365+146_2365+147delinsTG
XM_011510951.1:c.2121+146_2121+147delinsTG	XP_011509253.1:n.2121+146_2121+147delinsTG
XM_011510952.1:c.2121+146_2121+147delinsTG	XP_011509254.1:n.2121+146_2121+147delinsTG
XM_011510951.2:c.2121+146_2121+147delinsTG	XP_011509253.1:n.2121+146_2121+147delinsTG
NM_173076.3:c.2121+146_2121+147delinsTG MANE Select	NP_775099.2:n.2121+146_2121+147delinsTG
NR_103740.2:n.2563+146_2563+147delinsTG
NM_015657.4:c.1167+146_1167+147delinsTG	NP_056472.2:n.1167+146_1167+147delinsTG