Canonical Allele Identifier: CA1789664502

Gene: CYP7B1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616216_64616220delinsATTGT , CM000670.2:g.64616216_64616220delinsATTGT	GRCh38
NC_000008.10:g.65528773_65528777delinsATTGT , CM000670.1:g.65528773_65528777delinsATTGT	GRCh37
NC_000008.9:g.65691327_65691331delinsATTGT	NCBI36
NG_008338.1:g.187572_187576delinsACAAT
NG_008338.2:g.187572_187576delinsACAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.321_325delinsACAAT MANE Select	ENSP00000310721.3:p.Lys107=
ENST00000310193.3:c.321_325delinsACAAT	ENSP00000310721.3:p.Lys107=
NM_004820.3:c.321_325delinsACAAT	NP_004811.1:p.Lys107=
NM_001324112.1:c.321_325delinsACAAT	NP_001311041.1:p.Lys107=
NM_004820.4:c.321_325delinsACAAT	NP_004811.1:p.Lys107=
XM_017014002.1:c.387_391delinsACAAT	XP_016869491.1:p.Lys129=
NM_004820.5:c.321_325delinsACAAT MANE Select	NP_004811.1:p.Lys107=
NM_001324112.2:c.321_325delinsACAAT	NP_001311041.1:p.Lys107=