Canonical Allele Identifier: CA65501388

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs570560109
• gnomAD v3: 2-214932335-ATAAAT-A
• gnomAD v4: 2-214932335-ATAAAT-A
• MyVariant Identifiers: chr2:g.215797060_215797064del (hg19) ; chr2:g.214932336_214932340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932339_214932343del , CM000664.2:g.214932339_214932343del	GRCh38
NC_000002.11:g.215797063_215797067del , CM000664.1:g.215797063_215797067del	GRCh37
NC_000002.10:g.215505308_215505312del	NCBI36
NG_007074.1:g.211088_211092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*294_*298del (ABCA12) MANE Select	ENSP00000272895.7:n.*294_*298del
ENST00000272895.11:c.*294_*298del (ABCA12)	ENSP00000272895.7:n.*294_*298del
NM_015657.3:c.*294_*298del (ABCA12)	NP_056472.2:n.*294_*298del
NM_173076.2:c.*294_*298del (ABCA12)	NP_775099.2:n.*294_*298del
NR_103740.1:n.8382_8386del (ABCA12)
NR_110292.1:n.322-15486_322-15482del (SNHG31)
XM_011510951.1:c.*294_*298del (ABCA12)	XP_011509253.1:n.*294_*298del
XM_011510951.2:c.*294_*298del (ABCA12)	XP_011509253.1:n.*294_*298del
NM_173076.3:c.*294_*298del (ABCA12) MANE Select	NP_775099.2:n.*294_*298del
NR_103740.2:n.8580_8584del (ABCA12)
NM_015657.4:c.*294_*298del (ABCA12)	NP_056472.2:n.*294_*298del