Canonical Allele Identifier: CA2683216947
Gene: BAZ1B HGNC NCBI

Linked Data

gnomAD v4: 7-73441837-TCCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73441839_73441841del , CM000669.2:g.73441839_73441841del GRCh38
NC_000007.13:g.72856169_72856171del , CM000669.1:g.72856169_72856171del GRCh37
NC_000007.12:g.72494105_72494107del NCBI36
NG_027679.1:g.85446_85448del

Transcript Alleles

HGVS Amino-acid change
ENST00000339594.9:c.*16-147_*16-145del MANE Select ENSP00000342434.4:n.*16-147_*16-145del
ENST00000339594.8:c.*16-147_*16-145del ENSP00000342434.4:n.*16-147_*16-145del
ENST00000404251.1:c.*356_*358del ENSP00000385442.1:n.*356_*358del
NM_032408.3:c.*16-147_*16-145del NP_115784.1:n.*16-147_*16-145del
XM_017012773.2:c.*356_*358del XP_016868262.1:n.*356_*358del
NM_032408.4:c.*16-147_*16-145del MANE Select NP_115784.1:n.*16-147_*16-145del
NM_001370402.1:c.*356_*358del NP_001357331.1:n.*356_*358del
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