Canonical Allele Identifier: CA2662980628

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011865-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011865_215011866insA , CM000664.2:g.215011865_215011866insA	GRCh38
NC_000002.11:g.215876589_215876590insA , CM000664.1:g.215876589_215876590insA	GRCh37
NC_000002.10:g.215584834_215584835insA	NCBI36
NG_007074.1:g.131562_131563insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+105_2121+106insT MANE Select	ENSP00000272895.7:n.2121+105_2121+106insT
ENST00000272895.11:c.2121+105_2121+106insT	ENSP00000272895.7:n.2121+105_2121+106insT
ENST00000389661.4:c.1167+105_1167+106insT	ENSP00000374312.4:n.1167+105_1167+106insT
NM_015657.3:c.1167+105_1167+106insT	NP_056472.2:n.1167+105_1167+106insT
NM_173076.2:c.2121+105_2121+106insT	NP_775099.2:n.2121+105_2121+106insT
NR_103740.1:n.2365+105_2365+106insT
XM_011510951.1:c.2121+105_2121+106insT	XP_011509253.1:n.2121+105_2121+106insT
XM_011510952.1:c.2121+105_2121+106insT	XP_011509254.1:n.2121+105_2121+106insT
XM_011510951.2:c.2121+105_2121+106insT	XP_011509253.1:n.2121+105_2121+106insT
NM_173076.3:c.2121+105_2121+106insT MANE Select	NP_775099.2:n.2121+105_2121+106insT
NR_103740.2:n.2563+105_2563+106insT
NM_015657.4:c.1167+105_1167+106insT	NP_056472.2:n.1167+105_1167+106insT