Canonical Allele Identifier: CA539750158

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1220924632
• gnomAD v2: 2-215796811-G-GTGAC
• gnomAD v3: 2-214932087-G-GTGAC
• gnomAD v4: 2-214932087-G-GTGAC
• MyVariant Identifiers: chr2:g.215796811_215796812insTGAC (hg19) ; chr2:g.214932087_214932088insTGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932088_214932091dup , CM000664.2:g.214932088_214932091dup	GRCh38
NC_000002.11:g.215796812_215796815dup , CM000664.1:g.215796812_215796815dup	GRCh37
NC_000002.10:g.215505057_215505060dup	NCBI36
NG_007074.1:g.211337_211340dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*543_*546dup (ABCA12) MANE Select	ENSP00000272895.7:n.*543_*546dup
ENST00000272895.11:c.*543_*546dup (ABCA12)	ENSP00000272895.7:n.*543_*546dup
NM_015657.3:c.*543_*546dup (ABCA12)	NP_056472.2:n.*543_*546dup
NM_173076.2:c.*543_*546dup (ABCA12)	NP_775099.2:n.*543_*546dup
NR_103740.1:n.8631_8634dup (ABCA12)
NR_110292.1:n.322-15737_322-15734dup (SNHG31)
XM_011510951.1:c.*543_*546dup (ABCA12)	XP_011509253.1:n.*543_*546dup
XM_011510951.2:c.*543_*546dup (ABCA12)	XP_011509253.1:n.*543_*546dup
NM_173076.3:c.*543_*546dup (ABCA12) MANE Select	NP_775099.2:n.*543_*546dup
NR_103740.2:n.8829_8832dup (ABCA12)
NM_015657.4:c.*543_*546dup (ABCA12)	NP_056472.2:n.*543_*546dup