Canonical Allele Identifier: CA65501387

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs749021141
• gnomAD v3: 2-214932314-ACTGT-A
• gnomAD v4: 2-214932314-ACTGT-A
• MyVariant Identifiers: chr2:g.215797039_215797042del (hg19) ; chr2:g.214932315_214932318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932317_214932320del , CM000664.2:g.214932317_214932320del	GRCh38
NC_000002.11:g.215797041_215797044del , CM000664.1:g.215797041_215797044del	GRCh37
NC_000002.10:g.215505286_215505289del	NCBI36
NG_007074.1:g.211110_211113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*316_*319del (ABCA12) MANE Select	ENSP00000272895.7:n.*316_*319del
ENST00000272895.11:c.*316_*319del (ABCA12)	ENSP00000272895.7:n.*316_*319del
NM_015657.3:c.*316_*319del (ABCA12)	NP_056472.2:n.*316_*319del
NM_173076.2:c.*316_*319del (ABCA12)	NP_775099.2:n.*316_*319del
NR_103740.1:n.8404_8407del (ABCA12)
NR_110292.1:n.322-15508_322-15505del (SNHG31)
XM_011510951.1:c.*316_*319del (ABCA12)	XP_011509253.1:n.*316_*319del
XM_011510951.2:c.*316_*319del (ABCA12)	XP_011509253.1:n.*316_*319del
NM_173076.3:c.*316_*319del (ABCA12) MANE Select	NP_775099.2:n.*316_*319del
NR_103740.2:n.8602_8605del (ABCA12)
NM_015657.4:c.*316_*319del (ABCA12)	NP_056472.2:n.*316_*319del