Canonical Allele Identifier: CA1118991841
Gene:

Linked Data

dbSNP Id: rs1814935237
gnomAD v3: 8-126999438-TAA-T
gnomAD v4: 8-126999438-TAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999439_126999440del , CM000670.2:g.126999439_126999440del GRCh38
NC_000008.10:g.128011684_128011685del , CM000670.1:g.128011684_128011685del GRCh37
NC_000008.9:g.128080866_128080867del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7116_1301-7115del
Search 100 bp 5'
Search 100 bp 3'