Canonical Allele Identifier: CA2658667817
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075478-AGTGCCGTTGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075482_38075491del , CM000664.2:g.38075482_38075491del GRCh38
NC_000002.11:g.38302625_38302634del , CM000664.1:g.38302625_38302634del GRCh37
NC_000002.10:g.38156129_38156138del NCBI36
NG_008386.2:g.5614_5623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-99_-1-90del ENSP00000478839.2:n.-1-99_-1-90del
ENST00000610745.5:c.-1-99_-1-90del MANE Select ENSP00000478561.1:n.-1-99_-1-90del
ENST00000490576.1:c.-1-99_-1-90del ENSP00000478839.1:n.-1-99_-1-90del
ENST00000494864.1:c.-70-4178_-70-4169del ENSP00000479876.1:n.-70-4178_-70-4169del
ENST00000610745.4:c.-1-99_-1-90del ENSP00000478561.1:n.-1-99_-1-90del
ENST00000613082.1:n.375+292_375+301del
ENST00000614273.1:c.-1-99_-1-90del ENSP00000483678.1:n.-1-99_-1-90del
NM_000104.3:c.-1-99_-1-90del NP_000095.2:n.-1-99_-1-90del
XM_011533236.1:c.96_105del XP_011531538.1:p.Cys32TrpfsTer6
NM_000104.4:c.-1-99_-1-90del MANE Select NP_000095.2:n.-1-99_-1-90del
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