Canonical Allele Identifier: CA1029495167
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1682507413
gnomAD v3: 2-38075094-CATTCAGCACCACTATGGG-C
gnomAD v4: 2-38075094-CATTCAGCACCACTATGGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075095_38075112del , CM000664.2:g.38075095_38075112del GRCh38
NC_000002.11:g.38302238_38302255del , CM000664.1:g.38302238_38302255del GRCh37
NC_000002.10:g.38155742_38155759del NCBI36
NG_008386.2:g.5990_6007del

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.277_294del ENSP00000478839.2:p.Pro93_Asn98del
ENST00000610745.5:c.277_294del MANE Select ENSP00000478561.1:p.Pro93_Asn98del
ENST00000490576.1:c.277_294del ENSP00000478839.1:p.Pro93_Asn98del
ENST00000494864.1:c.-70-3802_-70-3785del ENSP00000479876.1:n.-70-3802_-70-3785del
ENST00000610745.4:c.277_294del ENSP00000478561.1:p.Pro93_Asn98del
ENST00000613082.1:n.375+668_375+685del
ENST00000614273.1:c.277_294del ENSP00000483678.1:p.Pro93_Asn98del
NM_000104.3:c.277_294del NP_000095.2:p.Pro93_Asn98del
NM_000104.4:c.277_294del MANE Select NP_000095.2:p.Pro93_Asn98del
Search 100 bp 5'
Search 100 bp 3'