Canonical Allele Identifier: CA2808190805

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650996_1650997del , CM000679.2:g.1650996_1650997del	GRCh38
NC_000017.10:g.1554290_1554291del , CM000679.1:g.1554290_1554291del	GRCh37
NC_000017.9:g.1501040_1501041del	NCBI36
NG_009118.1:g.38886_38887del
NG_033061.1:g.4102_4103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-41_6674-40del	ENSP00000460849.2:n.6674-41_6674-40del
ENST00000703537.1:c.2602-41_2602-40del
ENST00000703538.1:c.*6577-41_*6577-40del	ENSP00000515361.1:n.*6577-41_*6577-40del
ENST00000703539.1:n.3168-41_3168-40del
ENST00000703540.1:c.6707-41_6707-40del	ENSP00000515362.1:n.6707-41_6707-40del
ENST00000703541.1:c.6719-41_6719-40del	ENSP00000515363.1:n.6719-41_6719-40del
ENST00000304992.11:c.6854-41_6854-40del MANE Select	ENSP00000304350.6:n.6854-41_6854-40del
ENST00000304992.10:c.6854-41_6854-40del	ENSP00000304350.6:n.6854-41_6854-40del
ENST00000571958.1:c.162+111_162+112del
ENST00000572621.5:c.6854-41_6854-40del	ENSP00000460348.1:n.6854-41_6854-40del
ENST00000572723.1:n.843-41_843-40del
NM_006445.3:c.6854-41_6854-40del	NP_006436.3:n.6854-41_6854-40del
XM_024450537.1:c.6854-41_6854-40del	XP_024306305.1:n.6854-41_6854-40del
NM_006445.4:c.6854-41_6854-40del MANE Select	NP_006436.3:n.6854-41_6854-40del