Canonical Allele Identifier: CA575308086
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs1178923692
gnomAD v2: 7-72856278-ACTC-A
gnomAD v3: 7-73441948-ACTC-A
gnomAD v4: 7-73441948-ACTC-A
MyVariant Identifiers: chr7:g.72856279_72856281del (hg19) chr7:g.73441949_73441951del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441954_73441956del , CM000669.2:g.73441954_73441956del GRCh38
NC_000007.13:g.72856284_72856286del , CM000669.1:g.72856284_72856286del GRCh37
NC_000007.12:g.72494220_72494222del NCBI36
NG_027679.1:g.85335_85337del

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*15+230_*15+232del MANE Select ENSP00000342434.4:n.*15+230_*15+232del
ENST00000339594.8:c.*15+230_*15+232del ENSP00000342434.4:n.*15+230_*15+232del
ENST00000404251.1:c.*245_*247del ENSP00000385442.1:n.*245_*247del
NM_032408.3:c.*15+230_*15+232del NP_115784.1:n.*15+230_*15+232del
XM_017012773.2:c.*245_*247del XP_016868262.1:n.*245_*247del
NM_032408.4:c.*15+230_*15+232del MANE Select NP_115784.1:n.*15+230_*15+232del
NM_001370402.1:c.*245_*247del NP_001357331.1:n.*245_*247del
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