Canonical Allele Identifier: CA2635249022

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651176-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651177del , CM000679.2:g.1651177del	GRCh38
NC_000017.10:g.1554471del , CM000679.1:g.1554471del	GRCh37
NC_000017.9:g.1501221del	NCBI36
NG_009118.1:g.38706del
NG_033061.1:g.3922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6604del	ENSP00000460849.2:p.Leu2202CysfsTer?
ENST00000703537.1:c.2532del
ENST00000703538.1:c.*6507del	ENSP00000515361.1:n.*6507del
ENST00000703539.1:n.3098del
ENST00000703540.1:c.6637del	ENSP00000515362.1:p.Leu2213CysfsTer?
ENST00000703541.1:c.6649del	ENSP00000515363.1:p.Leu2217CysfsTer?
ENST00000304992.11:c.6784del MANE Select	ENSP00000304350.6:p.Leu2262CysfsTer?
ENST00000304992.10:c.6784del	ENSP00000304350.6:p.Leu2262CysfsTer?
ENST00000571958.1:c.93del
ENST00000572621.5:c.6784del	ENSP00000460348.1:p.Leu2262CysfsTer?
ENST00000572723.1:n.773del
NM_006445.3:c.6784del	NP_006436.3:p.Leu2262CysfsTer?
XM_024450537.1:c.6784del	XP_024306305.1:p.Leu2262CysfsTer?
NM_006445.4:c.6784del MANE Select	NP_006436.3:p.Leu2262CysfsTer?