Canonical Allele Identifier: CA1789667941
Gene: CYP7B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624262_64624263delinsAG , CM000670.2:g.64624262_64624263delinsAG GRCh38
NC_000008.10:g.65536819_65536820delinsAG , CM000670.1:g.65536819_65536820delinsAG GRCh37
NC_000008.9:g.65699373_65699374delinsAG NCBI36
NG_008338.1:g.179529_179530delinsCT
NG_008338.2:g.179529_179530delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.259+140_259+141delinsCT MANE Select ENSP00000310721.3:n.259+140_259+141delinsCT
ENST00000310193.3:c.259+140_259+141delinsCT ENSP00000310721.3:n.259+140_259+141delinsCT
NM_004820.3:c.259+140_259+141delinsCT NP_004811.1:n.259+140_259+141delinsCT
NM_001324112.1:c.259+140_259+141delinsCT NP_001311041.1:n.259+140_259+141delinsCT
NM_004820.4:c.259+140_259+141delinsCT NP_004811.1:n.259+140_259+141delinsCT
XM_017014002.1:c.325+140_325+141delinsCT XP_016869491.1:n.325+140_325+141delinsCT
NM_004820.5:c.259+140_259+141delinsCT MANE Select NP_004811.1:n.259+140_259+141delinsCT
NM_001324112.2:c.259+140_259+141delinsCT NP_001311041.1:n.259+140_259+141delinsCT