Canonical Allele Identifier: CA2662980585

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011860-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011861_215011862insTT , CM000664.2:g.215011861_215011862insTT	GRCh38
NC_000002.11:g.215876585_215876586insTT , CM000664.1:g.215876585_215876586insTT	GRCh37
NC_000002.10:g.215584830_215584831insTT	NCBI36
NG_007074.1:g.131567_131568insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+110_2121+111insAA MANE Select	ENSP00000272895.7:n.2121+110_2121+111insAA
ENST00000272895.11:c.2121+110_2121+111insAA	ENSP00000272895.7:n.2121+110_2121+111insAA
ENST00000389661.4:c.1167+110_1167+111insAA	ENSP00000374312.4:n.1167+110_1167+111insAA
NM_015657.3:c.1167+110_1167+111insAA	NP_056472.2:n.1167+110_1167+111insAA
NM_173076.2:c.2121+110_2121+111insAA	NP_775099.2:n.2121+110_2121+111insAA
NR_103740.1:n.2365+110_2365+111insAA
XM_011510951.1:c.2121+110_2121+111insAA	XP_011509253.1:n.2121+110_2121+111insAA
XM_011510952.1:c.2121+110_2121+111insAA	XP_011509254.1:n.2121+110_2121+111insAA
XM_011510951.2:c.2121+110_2121+111insAA	XP_011509253.1:n.2121+110_2121+111insAA
NM_173076.3:c.2121+110_2121+111insAA MANE Select	NP_775099.2:n.2121+110_2121+111insAA
NR_103740.2:n.2563+110_2563+111insAA
NM_015657.4:c.1167+110_1167+111insAA	NP_056472.2:n.1167+110_1167+111insAA