Canonical Allele Identifier: CA2658668021
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075605-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075607del , CM000664.2:g.38075607del GRCh38
NC_000002.11:g.38302750del , CM000664.1:g.38302750del GRCh37
NC_000002.10:g.38156254del NCBI36
NG_008386.2:g.5496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-217del ENSP00000478839.2:n.-1-217del
ENST00000610745.5:c.-2+174del MANE Select ENSP00000478561.1:n.-2+174del
ENST00000490576.1:c.-1-217del ENSP00000478839.1:n.-1-217del
ENST00000494864.1:c.-70-4296del ENSP00000479876.1:n.-70-4296del
ENST00000610745.4:c.-2+174del ENSP00000478561.1:n.-2+174del
ENST00000613082.1:n.375+174del
ENST00000614273.1:c.-2+170del ENSP00000483678.1:n.-2+170del
NM_000104.3:c.-2+174del NP_000095.2:n.-2+174del
XM_011533236.1:c.221del XP_011531538.1:p.Pro74GlnfsTer28
NM_000104.4:c.-2+174del MANE Select NP_000095.2:n.-2+174del
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