Canonical Allele Identifier: CA1789667993

Gene: CYP7B1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624406_64624409delinsCAAG , CM000670.2:g.64624406_64624409delinsCAAG	GRCh38
NC_000008.10:g.65536963_65536966delinsCAAG , CM000670.1:g.65536963_65536966delinsCAAG	GRCh37
NC_000008.9:g.65699517_65699520delinsCAAG	NCBI36
NG_008338.1:g.179383_179386delinsCTTG
NG_008338.2:g.179383_179386delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.253_256delinsCTTG MANE Select	ENSP00000310721.3:p.Leu85=
ENST00000310193.3:c.253_256delinsCTTG	ENSP00000310721.3:p.Leu85=
NM_004820.3:c.253_256delinsCTTG	NP_004811.1:p.Leu85=
NM_001324112.1:c.253_256delinsCTTG	NP_001311041.1:p.Leu85=
NM_004820.4:c.253_256delinsCTTG	NP_004811.1:p.Leu85=
XM_017014002.1:c.319_322delinsCTTG	XP_016869491.1:p.Leu107=
NM_004820.5:c.253_256delinsCTTG MANE Select	NP_004811.1:p.Leu85=
NM_001324112.2:c.253_256delinsCTTG	NP_001311041.1:p.Leu85=