Canonical Allele Identifier: CA1717046842
Gene: BAZ1B HGNC NCBI

Linked Data

dbSNP Id: rs1787628589
gnomAD v4: 7-73441824-ACACAGCAATCCCTCCCCTGGAGAC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441827_73441850del , CM000669.2:g.73441827_73441850del GRCh38
NC_000007.13:g.72856157_72856180del , CM000669.1:g.72856157_72856180del GRCh37
NC_000007.12:g.72494093_72494116del NCBI36
NG_027679.1:g.85438_85461del

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*16-155_*16-132del MANE Select ENSP00000342434.4:n.*16-155_*16-132del
ENST00000339594.8:c.*16-155_*16-132del ENSP00000342434.4:n.*16-155_*16-132del
ENST00000404251.1:c.*348_*371del ENSP00000385442.1:n.*348_*371del
NM_032408.3:c.*16-155_*16-132del NP_115784.1:n.*16-155_*16-132del
XM_017012773.2:c.*348_*371del XP_016868262.1:n.*348_*371del
NM_032408.4:c.*16-155_*16-132del MANE Select NP_115784.1:n.*16-155_*16-132del
NM_001370402.1:c.*348_*371del NP_001357331.1:n.*348_*371del
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