Canonical Allele Identifier: CA35069257
Gene:

Linked Data

dbSNP Id: rs77847085
gnomAD v3: 1-192800585-GAAA-G
gnomAD v4: 1-192800585-GAAA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800598_192800600del , CM000663.2:g.192800598_192800600del GRCh38
NC_000001.10:g.192769728_192769730del , CM000663.1:g.192769728_192769730del GRCh37
NC_000001.9:g.191036351_191036353del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.28_30del
Search 100 bp 5'
Search 100 bp 3'