Canonical Allele Identifier: CA2091446

Gene: ABCA12

Linked Data

• dbSNP Id: rs770975418
• ExAC: 2:215845411 TAC / T
• gnomAD v2: 2-215845411-TAC-T
• gnomAD v3: 2-214980687-TAC-T
• gnomAD v4: 2-214980687-TAC-T
• MyVariant Identifiers: chr2:g.215845412_215845413del (hg19) ; chr2:g.214980688_214980689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980689_214980690del , CM000664.2:g.214980689_214980690del	GRCh38
NC_000002.11:g.215845413_215845414del , CM000664.1:g.215845413_215845414del	GRCh37
NC_000002.10:g.215553658_215553659del	NCBI36
NG_007074.1:g.162739_162740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4580-46_4580-45del MANE Select	ENSP00000272895.7:n.4580-46_4580-45del
ENST00000272895.11:c.4580-46_4580-45del	ENSP00000272895.7:n.4580-46_4580-45del
ENST00000389661.4:c.3626-46_3626-45del	ENSP00000374312.4:n.3626-46_3626-45del
NM_015657.3:c.3626-46_3626-45del	NP_056472.2:n.3626-46_3626-45del
NM_173076.2:c.4580-46_4580-45del	NP_775099.2:n.4580-46_4580-45del
NR_103740.1:n.4880-46_4880-45del
XM_011510951.1:c.4589-46_4589-45del	XP_011509253.1:n.4589-46_4589-45del
XM_011510952.1:c.4589-46_4589-45del	XP_011509254.1:n.4589-46_4589-45del
XM_011510951.2:c.4589-46_4589-45del	XP_011509253.1:n.4589-46_4589-45del
NM_173076.3:c.4580-46_4580-45del MANE Select	NP_775099.2:n.4580-46_4580-45del
NR_103740.2:n.5078-46_5078-45del
NM_015657.4:c.3626-46_3626-45del	NP_056472.2:n.3626-46_3626-45del