Canonical Allele Identifier: CA1245626193
Gene: CYP1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071246_38071247delinsGC , CM000664.2:g.38071246_38071247delinsGC GRCh38
NC_000002.11:g.38298389_38298390delinsGC , CM000664.1:g.38298389_38298390delinsGC GRCh37
NC_000002.10:g.38151893_38151894delinsGC NCBI36
NG_008386.2:g.9855_9856delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1107_1108delinsGC ENSP00000478839.2:p.Leu369=
ENST00000610745.5:c.1107_1108delinsGC MANE Select ENSP00000478561.1:p.Leu369=
ENST00000492443.1:n.485_486delinsGC
ENST00000494864.1:c.-7_-6delinsGC ENSP00000479876.1:n.-7_-6delinsGC
ENST00000610745.4:c.1107_1108delinsGC ENSP00000478561.1:p.Leu369=
ENST00000613082.1:n.502_503delinsGC
ENST00000614273.1:c.1107_1108delinsGC ENSP00000483678.1:p.Leu369=
NM_000104.3:c.1107_1108delinsGC NP_000095.2:p.Leu369=
NM_000104.4:c.1107_1108delinsGC MANE Select NP_000095.2:p.Leu369=
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