Canonical Allele Identifier: CA2662974074

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214932549-G-GAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932552_214932553dup , CM000664.2:g.214932552_214932553dup	GRCh38
NC_000002.11:g.215797276_215797277dup , CM000664.1:g.215797276_215797277dup	GRCh37
NC_000002.10:g.215505521_215505522dup	NCBI36
NG_007074.1:g.210877_210878dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.*83_*84dup (ABCA12) MANE Select	ENSP00000272895.7:n.*83_*84dup
ENST00000272895.11:c.*83_*84dup (ABCA12)	ENSP00000272895.7:n.*83_*84dup
NM_015657.3:c.*83_*84dup (ABCA12)	NP_056472.2:n.*83_*84dup
NM_173076.2:c.*83_*84dup (ABCA12)	NP_775099.2:n.*83_*84dup
NR_103740.1:n.8171_8172dup (ABCA12)
NR_110292.1:n.322-15273_322-15272dup (SNHG31)
XM_011510951.1:c.*83_*84dup (ABCA12)	XP_011509253.1:n.*83_*84dup
XM_011510951.2:c.*83_*84dup (ABCA12)	XP_011509253.1:n.*83_*84dup
NM_173076.3:c.*83_*84dup (ABCA12) MANE Select	NP_775099.2:n.*83_*84dup
NR_103740.2:n.8369_8370dup (ABCA12)
NM_015657.4:c.*83_*84dup (ABCA12)	NP_056472.2:n.*83_*84dup