Canonical Allele Identifier: CA846669164
Gene:

Linked Data

dbSNP Id: rs1229874685
gnomAD v3: 8-122395847-CT-C
gnomAD v4: 8-122395847-CT-C
MyVariant Identifiers: chr8:g.123408087del (hg19) chr8:g.122395848del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395850del , CM000670.2:g.122395850del GRCh38
NC_000008.10:g.123408089del , CM000670.1:g.123408089del GRCh37
NC_000008.9:g.123477270del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3324del
XR_928599.3:n.152+3324del
Search 100 bp 5'
Search 100 bp 3'