Canonical Allele Identifier: CA2645834175
Gene: BSND HGNC NCBI

Linked Data

gnomAD v4: 1-54999063-GAAGCCTTGAGTTGCAGCGATTTCAGTGTCTTCTCTCCCTGTGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999070_54999112del , CM000663.2:g.54999070_54999112del GRCh38
NC_000001.10:g.55464743_55464785del , CM000663.1:g.55464743_55464785del GRCh37
NC_000001.9:g.55237331_55237373del NCBI36
NG_008965.1:g.5127_5169del
NG_008965.2:g.5138_5180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-117_-75del MANE Select ENSP00000498282.1:n.-117_-75del
ENST00000371265.4:c.-117_-75del ENSP00000360312.4:n.-117_-75del
NM_057176.2:c.-117_-75del NP_476517.1:n.-117_-75del
NM_057176.3:c.-117_-75del MANE Select NP_476517.1:n.-117_-75del
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