Canonical Allele Identifier: CA719188478
Gene: ABCA17P HGNC NCBI
ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1462867066
gnomAD v3: 16-2340739-G-GC
gnomAD v4: 16-2340739-G-GC
MyVariant Identifiers: chr16:g.2390740_2390741insC (hg19) chr16:g.2340739_2340740insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340740dup , CM000678.2:g.2340740dup GRCh38
NC_000016.9:g.2390741dup , CM000678.1:g.2390741dup GRCh37
NC_000016.8:g.2330742dup NCBI36
NG_011790.1:g.5007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1409dup (ABCA17P)
ENST00000382381.7:c.-706dup (ABCA3) ENSP00000371818.3:n.-706dup
ENST00000512848.5:n.182+1409dup (ABCA17P)
NM_001089.2:c.-706dup (ABCA3) NP_001080.2:n.-706dup
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