Canonical Allele Identifier: CA2242977733

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651180_1651181delinsTC , CM000679.2:g.1651180_1651181delinsTC	GRCh38
NC_000017.10:g.1554474_1554475delinsTC , CM000679.1:g.1554474_1554475delinsTC	GRCh37
NC_000017.9:g.1501224_1501225delinsTC	NCBI36
NG_009118.1:g.38702_38703delinsGA
NG_033061.1:g.3918_3919delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6600_6601delinsGA	ENSP00000460849.2:p.Gln2200=
ENST00000703537.1:c.2528_2529delinsGA
ENST00000703538.1:c.*6503_*6504delinsGA	ENSP00000515361.1:n.*6503_*6504delinsGA
ENST00000703539.1:n.3094_3095delinsGA
ENST00000703540.1:c.6633_6634delinsGA	ENSP00000515362.1:p.Gln2211=
ENST00000703541.1:c.6645_6646delinsGA	ENSP00000515363.1:p.Gln2215=
ENST00000304992.11:c.6780_6781delinsGA MANE Select	ENSP00000304350.6:p.Gln2260=
ENST00000304992.10:c.6780_6781delinsGA	ENSP00000304350.6:p.Gln2260=
ENST00000571958.1:c.89_90delinsGA
ENST00000572621.5:c.6780_6781delinsGA	ENSP00000460348.1:p.Gln2260=
ENST00000572723.1:n.769_770delinsGA
NM_006445.3:c.6780_6781delinsGA	NP_006436.3:p.Gln2260=
XM_024450537.1:c.6780_6781delinsGA	XP_024306305.1:p.Gln2260=
NM_006445.4:c.6780_6781delinsGA MANE Select	NP_006436.3:p.Gln2260=