Canonical Allele Identifier: CA539752551

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1399743417
• gnomAD v2: 2-215812140-TCTTAC-T
• gnomAD v4: 2-214947416-TCTTAC-T
• MyVariant Identifiers: chr2:g.215812141_215812145del (hg19) ; chr2:g.214947417_214947421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947418_214947422del , CM000664.2:g.214947418_214947422del	GRCh38
NC_000002.11:g.215812142_215812146del , CM000664.1:g.215812142_215812146del	GRCh37
NC_000002.10:g.215520387_215520391del	NCBI36
NG_007074.1:g.196007_196011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7239+1_7239+5del (ABCA12)
ENST00000272895.11:c.7239+1_7239+5del (ABCA12)
ENST00000389661.4:c.6285+1_6285+5del (ABCA12)
NM_015657.3:c.6285+1_6285+5del (ABCA12)
NM_173076.2:c.7239+1_7239+5del (ABCA12)
NR_103740.1:n.7539+1_7539+5del (ABCA12)
NR_110292.1:n.322-407_322-403del (SNHG31)
XM_011510951.1:c.7248+1_7248+5del (ABCA12)
XM_011510951.2:c.7248+1_7248+5del (ABCA12)
NM_173076.3:c.7239+1_7239+5del (ABCA12)
NR_103740.2:n.7737+1_7737+5del (ABCA12)
NM_015657.4:c.6285+1_6285+5del (ABCA12)