Canonical Allele Identifier: CA2579176585

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64616212-CTTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616215_64616218del , CM000670.2:g.64616215_64616218del	GRCh38
NC_000008.10:g.65528772_65528775del , CM000670.1:g.65528772_65528775del	GRCh37
NC_000008.9:g.65691326_65691329del	NCBI36
NG_008338.1:g.187576_187579del
NG_008338.2:g.187576_187579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.325_328del MANE Select	ENSP00000310721.3:p.Leu109AlafsTer10
ENST00000310193.3:c.325_328del	ENSP00000310721.3:p.Leu109AlafsTer10
NM_004820.3:c.325_328del	NP_004811.1:p.Leu109AlafsTer10
NM_001324112.1:c.325_328del	NP_001311041.1:p.Leu109AlafsTer10
NM_004820.4:c.325_328del	NP_004811.1:p.Leu109AlafsTer10
XM_017014002.1:c.391_394del	XP_016869491.1:p.Leu131AlafsTer10
NM_004820.5:c.325_328del MANE Select	NP_004811.1:p.Leu109AlafsTer10
NM_001324112.2:c.325_328del	NP_001311041.1:p.Leu109AlafsTer10