Canonical Allele Identifier: CA2754208698
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932279_214932281dup , CM000664.2:g.214932279_214932281dup GRCh38
NC_000002.11:g.215797003_215797005dup , CM000664.1:g.215797003_215797005dup GRCh37
NC_000002.10:g.215505248_215505250dup NCBI36
NG_007074.1:g.211148_211150dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*354_*356dup (ABCA12) MANE Select ENSP00000272895.7:n.*354_*356dup
ENST00000272895.11:c.*354_*356dup (ABCA12) ENSP00000272895.7:n.*354_*356dup
NM_015657.3:c.*354_*356dup (ABCA12) NP_056472.2:n.*354_*356dup
NM_173076.2:c.*354_*356dup (ABCA12) NP_775099.2:n.*354_*356dup
NR_103740.1:n.8442_8444dup (ABCA12)
NR_110292.1:n.322-15546_322-15544dup (SNHG31)
XM_011510951.1:c.*354_*356dup (ABCA12) XP_011509253.1:n.*354_*356dup
XM_011510951.2:c.*354_*356dup (ABCA12) XP_011509253.1:n.*354_*356dup
NM_173076.3:c.*354_*356dup (ABCA12) MANE Select NP_775099.2:n.*354_*356dup
NR_103740.2:n.8640_8642dup (ABCA12)
NM_015657.4:c.*354_*356dup (ABCA12) NP_056472.2:n.*354_*356dup