Canonical Allele Identifier: CA2635249045

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651312-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651317del , CM000679.2:g.1651317del	GRCh38
NC_000017.10:g.1554611del , CM000679.1:g.1554611del	GRCh37
NC_000017.9:g.1501361del	NCBI36
NG_009118.1:g.38570del
NG_033061.1:g.3786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6471-3del	ENSP00000460849.2:n.6471-3del
ENST00000703537.1:c.2399-3del
ENST00000703538.1:c.*6374-3del	ENSP00000515361.1:n.*6374-3del
ENST00000703539.1:n.2965-3del
ENST00000703540.1:c.6504-3del	ENSP00000515362.1:n.6504-3del
ENST00000703541.1:c.6516-3del	ENSP00000515363.1:n.6516-3del
ENST00000304992.11:c.6651-3del MANE Select	ENSP00000304350.6:n.6651-3del
ENST00000304992.10:c.6651-3del	ENSP00000304350.6:n.6651-3del
ENST00000572621.5:c.6651-3del	ENSP00000460348.1:n.6651-3del
ENST00000572723.1:n.640-3del
NM_006445.3:c.6651-3del	NP_006436.3:n.6651-3del
XM_024450537.1:c.6651-3del	XP_024306305.1:n.6651-3del
NM_006445.4:c.6651-3del MANE Select	NP_006436.3:n.6651-3del