Canonical Allele Identifier: CA276791208
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1012115581
gnomAD v3: 16-2340751-GCTCCTGCA-G
gnomAD v4: 16-2340751-GCTCCTGCA-G
MyVariant Identifiers: chr16:g.2390753_2390760del (hg19) chr16:g.2340752_2340759del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340752_2340759del , CM000678.2:g.2340752_2340759del GRCh38
NC_000016.9:g.2390753_2390760del , CM000678.1:g.2390753_2390760del GRCh37
NC_000016.8:g.2330754_2330761del NCBI36
NG_011790.1:g.4988_4995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1421_42+1428del
ENST00000512848.5:n.182+1421_182+1428del
Search 100 bp 5'
Search 100 bp 3'