Canonical Allele Identifier: CA1042202853

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1698083753
• gnomAD v3: 2-214932312-A-AAACT
• gnomAD v4: 2-214932312-A-AAACT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932313_214932316dup , CM000664.2:g.214932313_214932316dup	GRCh38
NC_000002.11:g.215797037_215797040dup , CM000664.1:g.215797037_215797040dup	GRCh37
NC_000002.10:g.215505282_215505285dup	NCBI36
NG_007074.1:g.211112_211115dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*318_*321dup (ABCA12) MANE Select	ENSP00000272895.7:n.*318_*321dup
ENST00000272895.11:c.*318_*321dup (ABCA12)	ENSP00000272895.7:n.*318_*321dup
NM_015657.3:c.*318_*321dup (ABCA12)	NP_056472.2:n.*318_*321dup
NM_173076.2:c.*318_*321dup (ABCA12)	NP_775099.2:n.*318_*321dup
NR_103740.1:n.8406_8409dup (ABCA12)
NR_110292.1:n.322-15512_322-15509dup (SNHG31)
XM_011510951.1:c.*318_*321dup (ABCA12)	XP_011509253.1:n.*318_*321dup
XM_011510951.2:c.*318_*321dup (ABCA12)	XP_011509253.1:n.*318_*321dup
NM_173076.3:c.*318_*321dup (ABCA12) MANE Select	NP_775099.2:n.*318_*321dup
NR_103740.2:n.8604_8607dup (ABCA12)
NM_015657.4:c.*318_*321dup (ABCA12)	NP_056472.2:n.*318_*321dup