Canonical Allele Identifier: CA2658667811
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075473-GAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075474_38075475del , CM000664.2:g.38075474_38075475del GRCh38
NC_000002.11:g.38302617_38302618del , CM000664.1:g.38302617_38302618del GRCh37
NC_000002.10:g.38156121_38156122del NCBI36
NG_008386.2:g.5627_5628del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-86_-1-85del ENSP00000478839.2:n.-1-86_-1-85del
ENST00000610745.5:c.-1-86_-1-85del MANE Select ENSP00000478561.1:n.-1-86_-1-85del
ENST00000490576.1:c.-1-86_-1-85del ENSP00000478839.1:n.-1-86_-1-85del
ENST00000494864.1:c.-70-4165_-70-4164del ENSP00000479876.1:n.-70-4165_-70-4164del
ENST00000610745.4:c.-1-86_-1-85del ENSP00000478561.1:n.-1-86_-1-85del
ENST00000613082.1:n.375+305_375+306del
ENST00000614273.1:c.-1-86_-1-85del ENSP00000483678.1:n.-1-86_-1-85del
NM_000104.3:c.-1-86_-1-85del NP_000095.2:n.-1-86_-1-85del
XM_011533236.1:c.88_89del XP_011531538.1:p.Thr30Ter
NM_000104.4:c.-1-86_-1-85del MANE Select NP_000095.2:n.-1-86_-1-85del
Search 100 bp 5'
Search 100 bp 3'