Canonical Allele Identifier: CA493074101
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1262417740 rs2141730310
gnomAD v3: 16-2340772-GA-G
gnomAD v4: 16-2340772-GA-G
MyVariant Identifiers: chr16:g.2390774del (hg19) chr16:g.2340773del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340773del , CM000678.2:g.2340773del GRCh38
NC_000016.9:g.2390774del , CM000678.1:g.2390774del GRCh37
NC_000016.8:g.2330775del NCBI36
NG_011790.1:g.4974del

Transcript Alleles

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