Canonical Allele Identifier: CA2808190791

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650678_1650690del , CM000679.2:g.1650678_1650690del	GRCh38
NC_000017.10:g.1553972_1553984del , CM000679.1:g.1553972_1553984del	GRCh37
NC_000017.9:g.1500722_1500734del	NCBI36
NG_009118.1:g.39193_39205del
NG_033061.1:g.4409_4421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*112_*124del	ENSP00000460849.2:n.*112_*124del
ENST00000703537.1:c.2868_2880del
ENST00000703538.1:c.*6843_*6855del	ENSP00000515361.1:n.*6843_*6855del
ENST00000703539.1:n.3434_3446del
ENST00000703540.1:c.*112_*124del	ENSP00000515362.1:n.*112_*124del
ENST00000304992.11:c.*112_*124del MANE Select	ENSP00000304350.6:n.*112_*124del
ENST00000304992.10:c.*112_*124del	ENSP00000304350.6:n.*112_*124del
ENST00000571958.1:c.319_331del
ENST00000572621.5:c.*112_*124del	ENSP00000460348.1:n.*112_*124del
NM_006445.3:c.*112_*124del	NP_006436.3:n.*112_*124del
XM_024450537.1:c.*112_*124del	XP_024306305.1:n.*112_*124del
NM_006445.4:c.*112_*124del MANE Select	NP_006436.3:n.*112_*124del