Canonical Allele Identifier: CA2502448379
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

gnomAD v4: 2-214932489-C-CTTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932491_214932494dup , CM000664.2:g.214932491_214932494dup GRCh38
NC_000002.11:g.215797215_215797218dup , CM000664.1:g.215797215_215797218dup GRCh37
NC_000002.10:g.215505460_215505463dup NCBI36
NG_007074.1:g.210935_210938dup

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.*141_*144dup (ABCA12) MANE Select ENSP00000272895.7:n.*141_*144dup
ENST00000272895.11:c.*141_*144dup (ABCA12) ENSP00000272895.7:n.*141_*144dup
NM_015657.3:c.*141_*144dup (ABCA12) NP_056472.2:n.*141_*144dup
NM_173076.2:c.*141_*144dup (ABCA12) NP_775099.2:n.*141_*144dup
NR_103740.1:n.8229_8232dup (ABCA12)
NR_110292.1:n.322-15334_322-15331dup (SNHG31)
XM_011510951.1:c.*141_*144dup (ABCA12) XP_011509253.1:n.*141_*144dup
XM_011510951.2:c.*141_*144dup (ABCA12) XP_011509253.1:n.*141_*144dup
NM_173076.3:c.*141_*144dup (ABCA12) MANE Select NP_775099.2:n.*141_*144dup
NR_103740.2:n.8427_8430dup (ABCA12)
NM_015657.4:c.*141_*144dup (ABCA12) NP_056472.2:n.*141_*144dup
Search 100 bp 5'
Search 100 bp 3'