Canonical Allele Identifier: CA1116942039
Gene:

Linked Data

dbSNP Id: rs1810399224
gnomAD v3: 8-97269691-AAC-A
gnomAD v4: 8-97269691-AAC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269693_97269694del , CM000670.2:g.97269693_97269694del GRCh38
NC_000008.10:g.98281921_98281922del , CM000670.1:g.98281921_98281922del GRCh37
NC_000008.9:g.98351097_98351098del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149377_471+149378del
Search 100 bp 5'
Search 100 bp 3'