Canonical Allele Identifier: CA2749546719
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38075530_38075531insGAT , CM000664.2:g.38075530_38075531insGAT GRCh38
NC_000002.11:g.38302673_38302674insGAT , CM000664.1:g.38302673_38302674insGAT GRCh37
NC_000002.10:g.38156177_38156178insGAT NCBI36
NG_008386.2:g.5571_5572insATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.-1-142_-1-141insATC ENSP00000478839.2:n.-1-142_-1-141insATC
ENST00000610745.5:c.-1-142_-1-141insATC MANE Select ENSP00000478561.1:n.-1-142_-1-141insATC
ENST00000490576.1:c.-1-142_-1-141insATC ENSP00000478839.1:n.-1-142_-1-141insATC
ENST00000494864.1:c.-70-4221_-70-4220insATC ENSP00000479876.1:n.-70-4221_-70-4220insATC
ENST00000610745.4:c.-1-142_-1-141insATC ENSP00000478561.1:n.-1-142_-1-141insATC
ENST00000613082.1:n.375+249_375+250insATC
ENST00000614273.1:c.-1-142_-1-141insATC ENSP00000483678.1:n.-1-142_-1-141insATC
NM_000104.3:c.-1-142_-1-141insATC NP_000095.2:n.-1-142_-1-141insATC
XM_011533236.1:c.144_145insGAT XP_011531538.1:p.Arg48_Arg49insAsp
NM_000104.4:c.-1-142_-1-141insATC MANE Select NP_000095.2:n.-1-142_-1-141insATC