Canonical Allele Identifier: CA2749544695
Gene: CYP1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071268_38071274del , CM000664.2:g.38071268_38071274del GRCh38
NC_000002.11:g.38298411_38298417del , CM000664.1:g.38298411_38298417del GRCh37
NC_000002.10:g.38151915_38151921del NCBI36
NG_008386.2:g.9829_9835del

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.1081_1087del ENSP00000478839.2:p.Asp361SerfsTer?
ENST00000610745.5:c.1081_1087del MANE Select ENSP00000478561.1:p.Asp361SerfsTer?
ENST00000492443.1:n.459_465del
ENST00000494864.1:c.-33_-27del ENSP00000479876.1:n.-33_-27del
ENST00000610745.4:c.1081_1087del ENSP00000478561.1:p.Asp361SerfsTer?
ENST00000613082.1:n.476_482del
ENST00000614273.1:c.1081_1087del ENSP00000483678.1:p.Asp361SerfsTer?
NM_000104.3:c.1081_1087del NP_000095.2:p.Asp361SerfsTer?
NM_000104.4:c.1081_1087del MANE Select NP_000095.2:p.Asp361SerfsTer?