Canonical Allele Identifier: CA2662973952

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs2105905046
• gnomAD v4: 2-214932342-A-AAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932344_214932347dup , CM000664.2:g.214932344_214932347dup	GRCh38
NC_000002.11:g.215797068_215797071dup , CM000664.1:g.215797068_215797071dup	GRCh37
NC_000002.10:g.215505313_215505316dup	NCBI36
NG_007074.1:g.211082_211085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*288_*291dup (ABCA12) MANE Select	ENSP00000272895.7:n.*288_*291dup
ENST00000272895.11:c.*288_*291dup (ABCA12)	ENSP00000272895.7:n.*288_*291dup
NM_015657.3:c.*288_*291dup (ABCA12)	NP_056472.2:n.*288_*291dup
NM_173076.2:c.*288_*291dup (ABCA12)	NP_775099.2:n.*288_*291dup
NR_103740.1:n.8376_8379dup (ABCA12)
NR_110292.1:n.322-15481_322-15478dup (SNHG31)
XM_011510951.1:c.*288_*291dup (ABCA12)	XP_011509253.1:n.*288_*291dup
XM_011510951.2:c.*288_*291dup (ABCA12)	XP_011509253.1:n.*288_*291dup
NM_173076.3:c.*288_*291dup (ABCA12) MANE Select	NP_775099.2:n.*288_*291dup
NR_103740.2:n.8574_8577dup (ABCA12)
NM_015657.4:c.*288_*291dup (ABCA12)	NP_056472.2:n.*288_*291dup