Canonical Allele Identifier: CA2631192825
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs2141757593
gnomAD v4: 16-2340815-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340820del , CM000678.2:g.2340820del GRCh38
NC_000016.9:g.2390821del , CM000678.1:g.2390821del GRCh37
NC_000016.8:g.2330822del NCBI36
NG_011790.1:g.4931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1489del
ENST00000512848.5:n.182+1489del
Search 100 bp 5'
Search 100 bp 3'