Canonical Allele Identifier: CA2662976205

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214953896-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953903dup , CM000664.2:g.214953903dup	GRCh38
NC_000002.11:g.215818627dup , CM000664.1:g.215818627dup	GRCh37
NC_000002.10:g.215526872dup	NCBI36
NG_007074.1:g.189531dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6604dup (ABCA12) MANE Select	ENSP00000272895.7:p.Ser2202PhefsTer22
ENST00000272895.11:c.6604dup (ABCA12)	ENSP00000272895.7:p.Ser2202PhefsTer22
ENST00000389661.4:c.5650dup (ABCA12)	ENSP00000374312.4:p.Ser1884PhefsTer22
NM_015657.3:c.5650dup (ABCA12)	NP_056472.2:p.Ser1884PhefsTer22
NM_173076.2:c.6604dup (ABCA12)	NP_775099.2:p.Ser2202PhefsTer22
NR_103740.1:n.6904dup (ABCA12)
NR_110292.1:n.444+5956dup (SNHG31)
XM_011510951.1:c.6613dup (ABCA12)	XP_011509253.1:p.Ser2205PhefsTer22
XM_011510951.2:c.6613dup (ABCA12)	XP_011509253.1:p.Ser2205PhefsTer22
NM_173076.3:c.6604dup (ABCA12) MANE Select	NP_775099.2:p.Ser2202PhefsTer22
NR_103740.2:n.7102dup (ABCA12)
NM_015657.4:c.5650dup (ABCA12)	NP_056472.2:p.Ser1884PhefsTer22