Canonical Allele Identifier: CA2808190814

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651009_1651010insAG , CM000679.2:g.1651009_1651010insAG	GRCh38
NC_000017.10:g.1554303_1554304insAG , CM000679.1:g.1554303_1554304insAG	GRCh37
NC_000017.9:g.1501053_1501054insAG	NCBI36
NG_009118.1:g.38873_38874insCT
NG_033061.1:g.4089_4090insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-54_6674-53insCT	ENSP00000460849.2:n.6674-54_6674-53insCT
ENST00000703537.1:c.2602-54_2602-53insCT
ENST00000703538.1:c.*6577-54_*6577-53insCT	ENSP00000515361.1:n.*6577-54_*6577-53insCT
ENST00000703539.1:n.3168-54_3168-53insCT
ENST00000703540.1:c.6707-54_6707-53insCT	ENSP00000515362.1:n.6707-54_6707-53insCT
ENST00000703541.1:c.6719-54_6719-53insCT	ENSP00000515363.1:n.6719-54_6719-53insCT
ENST00000304992.11:c.6854-54_6854-53insCT MANE Select	ENSP00000304350.6:n.6854-54_6854-53insCT
ENST00000304992.10:c.6854-54_6854-53insCT	ENSP00000304350.6:n.6854-54_6854-53insCT
ENST00000571958.1:c.162+98_162+99insCT
ENST00000572621.5:c.6854-54_6854-53insCT	ENSP00000460348.1:n.6854-54_6854-53insCT
ENST00000572723.1:n.843-54_843-53insCT
NM_006445.3:c.6854-54_6854-53insCT	NP_006436.3:n.6854-54_6854-53insCT
XM_024450537.1:c.6854-54_6854-53insCT	XP_024306305.1:n.6854-54_6854-53insCT
NM_006445.4:c.6854-54_6854-53insCT MANE Select	NP_006436.3:n.6854-54_6854-53insCT