Canonical Allele Identifier: CA2662980669

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011878-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011878_215011879insTA , CM000664.2:g.215011878_215011879insTA	GRCh38
NC_000002.11:g.215876602_215876603insTA , CM000664.1:g.215876602_215876603insTA	GRCh37
NC_000002.10:g.215584847_215584848insTA	NCBI36
NG_007074.1:g.131549_131550insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+92_2121+93insTA MANE Select	ENSP00000272895.7:n.2121+92_2121+93insTA
ENST00000272895.11:c.2121+92_2121+93insTA	ENSP00000272895.7:n.2121+92_2121+93insTA
ENST00000389661.4:c.1167+92_1167+93insTA	ENSP00000374312.4:n.1167+92_1167+93insTA
NM_015657.3:c.1167+92_1167+93insTA	NP_056472.2:n.1167+92_1167+93insTA
NM_173076.2:c.2121+92_2121+93insTA	NP_775099.2:n.2121+92_2121+93insTA
NR_103740.1:n.2365+92_2365+93insTA
XM_011510951.1:c.2121+92_2121+93insTA	XP_011509253.1:n.2121+92_2121+93insTA
XM_011510952.1:c.2121+92_2121+93insTA	XP_011509254.1:n.2121+92_2121+93insTA
XM_011510951.2:c.2121+92_2121+93insTA	XP_011509253.1:n.2121+92_2121+93insTA
NM_173076.3:c.2121+92_2121+93insTA MANE Select	NP_775099.2:n.2121+92_2121+93insTA
NR_103740.2:n.2563+92_2563+93insTA
NM_015657.4:c.1167+92_1167+93insTA	NP_056472.2:n.1167+92_1167+93insTA