Canonical Allele Identifier: CA2586971263

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214947496-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947497dup , CM000664.2:g.214947497dup	GRCh38
NC_000002.11:g.215812221dup , CM000664.1:g.215812221dup	GRCh37
NC_000002.10:g.215520466dup	NCBI36
NG_007074.1:g.195931dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7164dup (ABCA12) MANE Select	ENSP00000272895.7:p.Met2389TyrfsTer27
ENST00000272895.11:c.7164dup (ABCA12)	ENSP00000272895.7:p.Met2389TyrfsTer27
ENST00000389661.4:c.6210dup (ABCA12)	ENSP00000374312.4:p.Met2071TyrfsTer27
NM_015657.3:c.6210dup (ABCA12)	NP_056472.2:p.Met2071TyrfsTer27
NM_173076.2:c.7164dup (ABCA12)	NP_775099.2:p.Met2389TyrfsTer27
NR_103740.1:n.7464dup (ABCA12)
NR_110292.1:n.322-328dup (SNHG31)
XM_011510951.1:c.7173dup (ABCA12)	XP_011509253.1:p.Met2392TyrfsTer27
XM_011510951.2:c.7173dup (ABCA12)	XP_011509253.1:p.Met2392TyrfsTer27
NM_173076.3:c.7164dup (ABCA12) MANE Select	NP_775099.2:p.Met2389TyrfsTer27
NR_103740.2:n.7662dup (ABCA12)
NM_015657.4:c.6210dup (ABCA12)	NP_056472.2:p.Met2071TyrfsTer27