Canonical Allele Identifier: CA2662976204

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214953894-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953896dup , CM000664.2:g.214953896dup	GRCh38
NC_000002.11:g.215818620dup , CM000664.1:g.215818620dup	GRCh37
NC_000002.10:g.215526865dup	NCBI36
NG_007074.1:g.189533dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6606dup (ABCA12) MANE Select	ENSP00000272895.7:p.Arg2204AlafsTer20
ENST00000272895.11:c.6606dup (ABCA12)	ENSP00000272895.7:p.Arg2204AlafsTer20
ENST00000389661.4:c.5652dup (ABCA12)	ENSP00000374312.4:p.Arg1886AlafsTer20
NM_015657.3:c.5652dup (ABCA12)	NP_056472.2:p.Arg1886AlafsTer20
NM_173076.2:c.6606dup (ABCA12)	NP_775099.2:p.Arg2204AlafsTer20
NR_103740.1:n.6906dup (ABCA12)
NR_110292.1:n.444+5949dup (SNHG31)
XM_011510951.1:c.6615dup (ABCA12)	XP_011509253.1:p.Arg2207AlafsTer20
XM_011510951.2:c.6615dup (ABCA12)	XP_011509253.1:p.Arg2207AlafsTer20
NM_173076.3:c.6606dup (ABCA12) MANE Select	NP_775099.2:p.Arg2204AlafsTer20
NR_103740.2:n.7104dup (ABCA12)
NM_015657.4:c.5652dup (ABCA12)	NP_056472.2:p.Arg1886AlafsTer20