Canonical Allele Identifier: CA2658667804
Gene: CYP1B1 HGNC NCBI

Linked Data

gnomAD v4: 2-38075469-T-TGGGGTA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075473_38075474insTAGGGG , CM000664.2:g.38075473_38075474insTAGGGG GRCh38
NC_000002.11:g.38302616_38302617insTAGGGG , CM000664.1:g.38302616_38302617insTAGGGG GRCh37
NC_000002.10:g.38156120_38156121insTAGGGG NCBI36
NG_008386.2:g.5632_5633insTACCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-81_-1-80insTACCCC ENSP00000478839.2:n.-1-81_-1-80insTACCCC
ENST00000610745.5:c.-1-81_-1-80insTACCCC MANE Select ENSP00000478561.1:n.-1-81_-1-80insTACCCC
ENST00000490576.1:c.-1-81_-1-80insTACCCC ENSP00000478839.1:n.-1-81_-1-80insTACCCC
ENST00000494864.1:c.-70-4160_-70-4159insTACCCC ENSP00000479876.1:n.-70-4160_-70-4159insTACCCC
ENST00000610745.4:c.-1-81_-1-80insTACCCC ENSP00000478561.1:n.-1-81_-1-80insTACCCC
ENST00000613082.1:n.375+310_375+311insTACCCC
ENST00000614273.1:c.-1-81_-1-80insTACCCC ENSP00000483678.1:n.-1-81_-1-80insTACCCC
NM_000104.3:c.-1-81_-1-80insTACCCC NP_000095.2:n.-1-81_-1-80insTACCCC
XM_011533236.1:c.87_88insTAGGGG
NM_000104.4:c.-1-81_-1-80insTACCCC MANE Select NP_000095.2:n.-1-81_-1-80insTACCCC
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