Canonical Allele Identifier: CA2635248393

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650792-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650795del , CM000679.2:g.1650795del	GRCh38
NC_000017.10:g.1554089del , CM000679.1:g.1554089del	GRCh37
NC_000017.9:g.1500839del	NCBI36
NG_009118.1:g.39090del
NG_033061.1:g.4306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*9del	ENSP00000460849.2:n.*9del
ENST00000703537.1:c.2765del
ENST00000703538.1:c.*6740del	ENSP00000515361.1:n.*6740del
ENST00000703539.1:n.3331del
ENST00000703540.1:c.*9del	ENSP00000515362.1:n.*9del
ENST00000304992.11:c.*9del MANE Select	ENSP00000304350.6:n.*9del
ENST00000304992.10:c.*9del	ENSP00000304350.6:n.*9del
ENST00000571958.1:c.216del
ENST00000572621.5:c.*9del	ENSP00000460348.1:n.*9del
NM_006445.3:c.*9del	NP_006436.3:n.*9del
XM_024450537.1:c.*9del	XP_024306305.1:n.*9del
NM_006445.4:c.*9del MANE Select	NP_006436.3:n.*9del