Canonical Allele Identifier: CA645545662

Gene: CYP7B1

Linked Data

• COSMIC: COSM5017337

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616147_64616148insT , CM000670.2:g.64616147_64616148insT	GRCh38
NC_000008.10:g.65528704_65528705insT , CM000670.1:g.65528704_65528705insT	GRCh37
NC_000008.9:g.65691258_65691259insT	NCBI36
NG_008338.1:g.187644_187645insA
NG_008338.2:g.187644_187645insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.393_394insA MANE Select	ENSP00000310721.3:p.His132ThrfsTer2
ENST00000310193.3:c.393_394insA	ENSP00000310721.3:p.His132ThrfsTer2
NM_004820.3:c.393_394insA	NP_004811.1:p.His132ThrfsTer2
NM_001324112.1:c.393_394insA	NP_001311041.1:p.His132ThrfsTer2
NM_004820.4:c.393_394insA	NP_004811.1:p.His132ThrfsTer2
XM_017014002.1:c.459_460insA	XP_016869491.1:p.His154ThrfsTer2
NM_004820.5:c.393_394insA MANE Select	NP_004811.1:p.His132ThrfsTer2
NM_001324112.2:c.393_394insA	NP_001311041.1:p.His132ThrfsTer2