Canonical Allele Identifier: CA1245628243
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075203_38075204delinsGT , CM000664.2:g.38075203_38075204delinsGT GRCh38
NC_000002.11:g.38302346_38302347delinsGT , CM000664.1:g.38302346_38302347delinsGT GRCh37
NC_000002.10:g.38155850_38155851delinsGT NCBI36
NG_008386.2:g.5898_5899delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.185_186delinsAC ENSP00000478839.2:p.Asn62=
ENST00000610745.5:c.185_186delinsAC MANE Select ENSP00000478561.1:p.Asn62=
ENST00000490576.1:c.185_186delinsAC ENSP00000478839.1:p.Asn62=
ENST00000494864.1:c.-70-3894_-70-3893delinsAC ENSP00000479876.1:n.-70-3894_-70-3893delinsAC
ENST00000610745.4:c.185_186delinsAC ENSP00000478561.1:p.Asn62=
ENST00000613082.1:n.375+576_375+577delinsAC
ENST00000614273.1:c.185_186delinsAC ENSP00000483678.1:p.Asn62=
NM_000104.3:c.185_186delinsAC NP_000095.2:p.Asn62=
NM_000104.4:c.185_186delinsAC MANE Select NP_000095.2:p.Asn62=