Canonical Allele Identifier: CA2242977013

Gene: PRPF8

Linked Data

• dbSNP Id: rs1910983001

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650710_1650711insTTTC , CM000679.2:g.1650710_1650711insTTTC	GRCh38
NC_000017.10:g.1554004_1554005insTTTC , CM000679.1:g.1554004_1554005insTTTC	GRCh37
NC_000017.9:g.1500754_1500755insTTTC	NCBI36
NG_009118.1:g.39172_39173insGAAA
NG_033061.1:g.4388_4389insGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*91_*92insGAAA	ENSP00000460849.2:n.*91_*92insGAAA
ENST00000703537.1:c.2847_2848insGAAA
ENST00000703538.1:c.*6822_*6823insGAAA	ENSP00000515361.1:n.*6822_*6823insGAAA
ENST00000703539.1:n.3413_3414insGAAA
ENST00000703540.1:c.*91_*92insGAAA	ENSP00000515362.1:n.*91_*92insGAAA
ENST00000304992.11:c.*91_*92insGAAA MANE Select	ENSP00000304350.6:n.*91_*92insGAAA
ENST00000304992.10:c.*91_*92insGAAA	ENSP00000304350.6:n.*91_*92insGAAA
ENST00000571958.1:c.298_299insGAAA
ENST00000572621.5:c.*91_*92insGAAA	ENSP00000460348.1:n.*91_*92insGAAA
NM_006445.3:c.*91_*92insGAAA	NP_006436.3:n.*91_*92insGAAA
XM_024450537.1:c.*91_*92insGAAA	XP_024306305.1:n.*91_*92insGAAA
NM_006445.4:c.*91_*92insGAAA MANE Select	NP_006436.3:n.*91_*92insGAAA