Canonical Allele Identifier: CA2739268835
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2855000
ClinVar RCV Id: RCV003752371
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616044_64616045delinsCA , CM000670.2:g.64616044_64616045delinsCA GRCh38
NC_000008.10:g.65528601_65528602delinsCA , CM000670.1:g.65528601_65528602delinsCA GRCh37
NC_000008.9:g.65691155_65691156delinsCA NCBI36
NG_008338.1:g.187747_187748delinsTG
NG_008338.2:g.187747_187748delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.496_497delinsTG MANE Select ENSP00000310721.3:p.Glu166Ter
ENST00000310193.3:c.496_497delinsTG ENSP00000310721.3:p.Glu166Ter
NM_004820.3:c.496_497delinsTG NP_004811.1:p.Glu166Ter
NM_001324112.1:c.496_497delinsTG NP_001311041.1:p.Glu166Ter
NM_004820.4:c.496_497delinsTG NP_004811.1:p.Glu166Ter
XM_017014002.1:c.562_563delinsTG XP_016869491.1:p.Glu188Ter
NM_004820.5:c.496_497delinsTG MANE Select NP_004811.1:p.Glu166Ter
NM_001324112.2:c.496_497delinsTG NP_001311041.1:p.Glu166Ter
Search 100 bp 5'
Search 100 bp 3'