Canonical Allele Identifier: CA2695224076

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650914_1650917delinsTCTATGG , CM000679.2:g.1650914_1650917delinsTCTATGG	GRCh38
NC_000017.10:g.1554208_1554211delinsTCTATGG , CM000679.1:g.1554208_1554211delinsTCTATGG	GRCh37
NC_000017.9:g.1500958_1500961delinsTCTATGG	NCBI36
NG_009118.1:g.38966_38969delinsCCATAGA
NG_033061.1:g.4182_4185delinsCCATAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6713_6716delinsCCATAGA	ENSP00000460849.2:p.Leu2238_Ala2239delinsProIleGlu
ENST00000703537.1:c.2641_2644delinsCCATAGA
ENST00000703538.1:c.*6616_*6619delinsCCATAGA	ENSP00000515361.1:n.*6616_*6619delinsCCATAGA
ENST00000703539.1:n.3207_3210delinsCCATAGA
ENST00000703540.1:c.6746_6749delinsCCATAGA	ENSP00000515362.1:p.Leu2249_Ala2250delinsProIleGlu
ENST00000703541.1:c.6758_6761delinsCCATAGA	ENSP00000515363.1:p.Leu2253_Ala2254delinsProIleGlu
ENST00000304992.11:c.6893_6896delinsCCATAGA MANE Select	ENSP00000304350.6:p.Leu2298_Ala2299delinsProIleGlu
ENST00000304992.10:c.6893_6896delinsCCATAGA	ENSP00000304350.6:p.Leu2298_Ala2299delinsProIleGlu
ENST00000571958.1:c.163-71_163-68delinsCCATAGA
ENST00000572621.5:c.6893_6896delinsCCATAGA	ENSP00000460348.1:p.Leu2298_Ala2299delinsProIleGlu
ENST00000572723.1:n.882_885delinsCCATAGA
NM_006445.3:c.6893_6896delinsCCATAGA	NP_006436.3:p.Leu2298_Ala2299delinsProIleGlu
XM_024450537.1:c.6893_6896delinsCCATAGA	XP_024306305.1:p.Leu2298_Ala2299delinsProIleGlu
NM_006445.4:c.6893_6896delinsCCATAGA MANE Select	NP_006436.3:p.Leu2298_Ala2299delinsProIleGlu