Canonical Allele Identifier: CA1027923137
Gene:

Linked Data

dbSNP Id: rs1664550567
gnomAD v3: 2-16458128-ACTTTTT-A
gnomAD v4: 2-16458128-ACTTTTT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458134_16458139del , CM000664.2:g.16458134_16458139del GRCh38
NC_000002.11:g.16639402_16639407del , CM000664.1:g.16639402_16639407del GRCh37
NC_000002.10:g.16502883_16502888del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3040_396-3035del
Search 100 bp 5'
Search 100 bp 3'