Canonical Allele Identifier: CA982865162
Gene:

Linked Data

gnomAD v3: 17-30237127-AATGCTGGAGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGG-A
gnomAD v4: 17-30237127-AATGCTGGAGGGGTGCAGGGGGGATGCCGGGGGTGCATGGGGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237135_30237177del , CM000679.2:g.30237135_30237177del GRCh38
NC_000017.10:g.28564153_28564195del , CM000679.1:g.28564153_28564195del GRCh37
NC_000017.9:g.25588279_25588321del NCBI36
NG_011747.2:g.3767_3809del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+65_165+107del
XR_001752824.1:n.280+65_280+107del
Search 100 bp 5'
Search 100 bp 3'