Canonical Allele Identifier: CA915640149

Gene: CYP7B1

Linked Data

• gnomAD v2: 8-65536961-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624405_64624406del , CM000670.2:g.64624405_64624406del	GRCh38
NC_000008.10:g.65536962_65536963del , CM000670.1:g.65536962_65536963del	GRCh37
NC_000008.9:g.65699516_65699517del	NCBI36
NG_008338.1:g.179386_179387del
NG_008338.2:g.179386_179387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.256_257del MANE Select	ENSP00000310721.3:p.Gly86TrpfsTer21
ENST00000310193.3:c.256_257del	ENSP00000310721.3:p.Gly86TrpfsTer21
NM_004820.3:c.256_257del	NP_004811.1:p.Gly86TrpfsTer21
NM_001324112.1:c.256_257del	NP_001311041.1:p.Gly86TrpfsTer21
NM_004820.4:c.256_257del	NP_004811.1:p.Gly86TrpfsTer21
XM_017014002.1:c.322_323del	XP_016869491.1:p.Gly108TrpfsTer21
NM_004820.5:c.256_257del MANE Select	NP_004811.1:p.Gly86TrpfsTer21
NM_001324112.2:c.256_257del	NP_001311041.1:p.Gly86TrpfsTer21