Canonical Allele Identifier: CA45506498
Gene: CYP1B1 HGNC NCBI

Linked Data

dbSNP Id: rs587778873
MyVariant Identifiers: chr2:g.38298288_38298297del (hg19) chr2:g.38071145_38071154del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38071147_38071156del , CM000664.2:g.38071147_38071156del GRCh38
NC_000002.11:g.38298290_38298299del , CM000664.1:g.38298290_38298299del GRCh37
NC_000002.10:g.38151794_38151803del NCBI36
NG_008386.2:g.9948_9957del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490576.2:c.1200_1209del ENSP00000478839.2:p.His401LeufsTer24
ENST00000610745.5:c.1200_1209del MANE Select ENSP00000478561.1:p.His401LeufsTer24
ENST00000492443.1:n.578_587del
ENST00000494864.1:c.87_96del ENSP00000479876.1:p.His30LeufsTer24
ENST00000610745.4:c.1200_1209del ENSP00000478561.1:p.His401LeufsTer24
ENST00000614273.1:c.1200_1209del ENSP00000483678.1:p.His401LeufsTer24
NM_000104.3:c.1200_1209del NP_000095.2:p.His401LeufsTer24
NM_000104.4:c.1200_1209del MANE Select NP_000095.2:p.His401LeufsTer24
Search 100 bp 5'
Search 100 bp 3'