Canonical Allele Identifier: CA276791223
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs947360251
gnomAD v3: 16-2340771-GGATGGCGCGT-G
gnomAD v4: 16-2340771-GGATGGCGCGT-G
MyVariant Identifiers: chr16:g.2390773_2390782del (hg19) chr16:g.2340772_2340781del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340773_2340782del , CM000678.2:g.2340773_2340782del GRCh38
NC_000016.9:g.2390774_2390783del , CM000678.1:g.2390774_2390783del GRCh37
NC_000016.8:g.2330775_2330784del NCBI36
NG_011790.1:g.4966_4975del

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1442_42+1451del
ENST00000512848.5:n.182+1442_182+1451del
Search 100 bp 5'
Search 100 bp 3'