Canonical Allele Identifier: CA2662986003
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-215064016-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064018dup , CM000664.2:g.215064018dup GRCh38
NC_000002.11:g.215928741dup , CM000664.1:g.215928741dup GRCh37
NC_000002.10:g.215636986dup NCBI36
NG_007074.1:g.79412dup

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.317+49dup MANE Select ENSP00000272895.7:n.317+49dup
ENST00000272895.11:c.317+49dup ENSP00000272895.7:n.317+49dup
NM_173076.2:c.317+49dup NP_775099.2:n.317+49dup
NR_103740.1:n.537+49dup
XM_011510951.1:c.317+49dup XP_011509253.1:n.317+49dup
XM_011510952.1:c.317+49dup XP_011509254.1:n.317+49dup
XM_011510951.2:c.317+49dup XP_011509253.1:n.317+49dup
NM_173076.3:c.317+49dup MANE Select NP_775099.2:n.317+49dup
NR_103740.2:n.735+49dup
Search 100 bp 5'
Search 100 bp 3'