Canonical Allele Identifier: CA915640147

Gene: CYP7B1

Linked Data

• gnomAD v2: 8-65536951-GCTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624395_64624398del , CM000670.2:g.64624395_64624398del	GRCh38
NC_000008.10:g.65536952_65536955del , CM000670.1:g.65536952_65536955del	GRCh37
NC_000008.9:g.65699506_65699509del	NCBI36
NG_008338.1:g.179394_179397del
NG_008338.2:g.179394_179397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.259+5_259+8del MANE Select	ENSP00000310721.3:n.259+5_259+8del
ENST00000310193.3:c.259+5_259+8del	ENSP00000310721.3:n.259+5_259+8del
NM_004820.3:c.259+5_259+8del	NP_004811.1:n.259+5_259+8del
NM_001324112.1:c.259+5_259+8del	NP_001311041.1:n.259+5_259+8del
NM_004820.4:c.259+5_259+8del	NP_004811.1:n.259+5_259+8del
XM_017014002.1:c.325+5_325+8del	XP_016869491.1:n.325+5_325+8del
NM_004820.5:c.259+5_259+8del MANE Select	NP_004811.1:n.259+5_259+8del
NM_001324112.2:c.259+5_259+8del	NP_001311041.1:n.259+5_259+8del