Canonical Allele Identifier: CA2687454854

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64624437-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624441del , CM000670.2:g.64624441del	GRCh38
NC_000008.10:g.65536998del , CM000670.1:g.65536998del	GRCh37
NC_000008.9:g.65699552del	NCBI36
NG_008338.1:g.179354del
NG_008338.2:g.179354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.224del MANE Select	ENSP00000310721.3:p.Lys75SerfsTer16
ENST00000310193.3:c.224del	ENSP00000310721.3:p.Lys75SerfsTer16
NM_004820.3:c.224del	NP_004811.1:p.Lys75SerfsTer16
NM_001324112.1:c.224del	NP_001311041.1:p.Lys75SerfsTer16
NM_004820.4:c.224del	NP_004811.1:p.Lys75SerfsTer16
XM_017014002.1:c.290del	XP_016869491.1:p.Lys97SerfsTer16
NM_004820.5:c.224del MANE Select	NP_004811.1:p.Lys75SerfsTer16
NM_001324112.2:c.224del	NP_001311041.1:p.Lys75SerfsTer16