Canonical Allele Identifier: CA982817115
Gene:

Linked Data

dbSNP Id: rs2069612988
gnomAD v3: 17-29376336-AAG-A
gnomAD v4: 17-29376336-AAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376342_29376343del , CM000679.2:g.29376342_29376343del GRCh38
NC_000017.10:g.27703360_27703361del , CM000679.1:g.27703360_27703361del GRCh37
NC_000017.9:g.24727486_24727487del NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011525588.1:c.1008-6033_1008-6032del XP_011523890.1:n.1008-6033_1008-6032del
Search 100 bp 5'
Search 100 bp 3'