Canonical Allele Identifier: CA2580612929
Gene: BSND HGNC NCBI

Linked Data

ClinVar Variation Id: 2577180
ClinVar RCV Id: RCV003324257
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999145_54999186dup , CM000663.2:g.54999145_54999186dup GRCh38
NC_000001.10:g.55464818_55464859dup , CM000663.1:g.55464818_55464859dup GRCh37
NC_000001.9:g.55237406_55237447dup NCBI36
NG_008965.1:g.5202_5243dup
NG_008965.2:g.5213_5254dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.-42_-1dup MANE Select ENSP00000498282.1:p.Met1insProLeuProGlyValCysArgProGlyThrGlyG...
ENST00000371265.4:c.-42_-1dup ENSP00000360312.4:p.Met1insProLeuProGlyValCysArgProGlyThrGlyG...
NM_057176.2:c.-42_-1dup NP_476517.1:p.Met1insProLeuProGlyValCysArgProGlyThrGlyGlnAlaA...
NM_057176.3:c.-42_-1dup MANE Select NP_476517.1:p.Met1insProLeuProGlyValCysArgProGlyThrGlyGlnAlaA...
Search 100 bp 5'
Search 100 bp 3'