Canonical Allele Identifier: CA2658667957
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075571-GAAGGGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075572_38075578del , CM000664.2:g.38075572_38075578del GRCh38
NC_000002.11:g.38302715_38302721del , CM000664.1:g.38302715_38302721del GRCh37
NC_000002.10:g.38156219_38156225del NCBI36
NG_008386.2:g.5524_5530del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-189_-1-183del ENSP00000478839.2:n.-1-189_-1-183del
ENST00000610745.5:c.-1-189_-1-183del MANE Select ENSP00000478561.1:n.-1-189_-1-183del
ENST00000490576.1:c.-1-189_-1-183del ENSP00000478839.1:n.-1-189_-1-183del
ENST00000494864.1:c.-70-4268_-70-4262del ENSP00000479876.1:n.-70-4268_-70-4262del
ENST00000610745.4:c.-1-189_-1-183del ENSP00000478561.1:n.-1-189_-1-183del
ENST00000613082.1:n.375+202_375+208del
ENST00000614273.1:c.-1-189_-1-183del ENSP00000483678.1:n.-1-189_-1-183del
NM_000104.3:c.-1-189_-1-183del NP_000095.2:n.-1-189_-1-183del
XM_011533236.1:c.186_192del XP_011531538.1:p.Arg63CysfsTer?
NM_000104.4:c.-1-189_-1-183del MANE Select NP_000095.2:n.-1-189_-1-183del
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