Canonical Allele Identifier: CA2749545442
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075508_38075509insA , CM000664.2:g.38075508_38075509insA GRCh38
NC_000002.11:g.38302651_38302652insA , CM000664.1:g.38302651_38302652insA GRCh37
NC_000002.10:g.38156155_38156156insA NCBI36
NG_008386.2:g.5593_5594insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-120_-1-119insT ENSP00000478839.2:n.-1-120_-1-119insT
ENST00000610745.5:c.-1-120_-1-119insT MANE Select ENSP00000478561.1:n.-1-120_-1-119insT
ENST00000490576.1:c.-1-120_-1-119insT ENSP00000478839.1:n.-1-120_-1-119insT
ENST00000494864.1:c.-70-4199_-70-4198insT ENSP00000479876.1:n.-70-4199_-70-4198insT
ENST00000610745.4:c.-1-120_-1-119insT ENSP00000478561.1:n.-1-120_-1-119insT
ENST00000613082.1:n.375+271_375+272insT
ENST00000614273.1:c.-1-120_-1-119insT ENSP00000483678.1:n.-1-120_-1-119insT
NM_000104.3:c.-1-120_-1-119insT NP_000095.2:n.-1-120_-1-119insT
XM_011533236.1:c.122_123insA XP_011531538.1:p.Leu42SerfsTer30
NM_000104.4:c.-1-120_-1-119insT MANE Select NP_000095.2:n.-1-120_-1-119insT
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