Canonical Allele Identifier: CA523275344
Gene: BSND HGNC NCBI

Linked Data

dbSNP Id: rs1345074082
gnomAD v2: 1-55464869-GAGA-G
gnomAD v3: 1-54999196-GAGA-G
gnomAD v4: 1-54999196-GAGA-G
MyVariant Identifiers: chr1:g.55464870_55464872del (hg19) chr1:g.54999197_54999199del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.54999200_54999202del , CM000663.2:g.54999200_54999202del GRCh38
NC_000001.10:g.55464873_55464875del , CM000663.1:g.55464873_55464875del GRCh37
NC_000001.9:g.55237461_55237463del NCBI36
NG_008965.1:g.5257_5259del
NG_008965.2:g.5268_5270del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651561.1:c.14_16del MANE Select ENSP00000498282.1:p.Lys5del
ENST00000371265.4:c.14_16del ENSP00000360312.4:p.Lys5del
NM_057176.2:c.14_16del NP_476517.1:p.Lys5del
NM_057176.3:c.14_16del MANE Select NP_476517.1:p.Lys5del
Search 100 bp 5'
Search 100 bp 3'