Canonical Allele Identifier: CA719188538
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1426969844
gnomAD v3: 16-2340770-C-CGGAT
gnomAD v4: 16-2340770-C-CGGAT
MyVariant Identifiers: chr16:g.2390771_2390772insGGAT (hg19) chr16:g.2340770_2340771insGGAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340773_2340776dup , CM000678.2:g.2340773_2340776dup GRCh38
NC_000016.9:g.2390774_2390777dup , CM000678.1:g.2390774_2390777dup GRCh37
NC_000016.8:g.2330775_2330778dup NCBI36
NG_011790.1:g.4973_4976dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1442_42+1445dup
ENST00000512848.5:n.182+1442_182+1445dup
Search 100 bp 5'
Search 100 bp 3'