Canonical Allele Identifier: CA2808190831

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651053_1651054insAGA , CM000679.2:g.1651053_1651054insAGA	GRCh38
NC_000017.10:g.1554347_1554348insAGA , CM000679.1:g.1554347_1554348insAGA	GRCh37
NC_000017.9:g.1501097_1501098insAGA	NCBI36
NG_009118.1:g.38829_38830insTCT
NG_033061.1:g.4045_4046insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+54_6673+55insTCT	ENSP00000460849.2:n.6673+54_6673+55insTCT
ENST00000703537.1:c.2601+54_2601+55insTCT
ENST00000703538.1:c.*6576+54_*6576+55insTCT	ENSP00000515361.1:n.*6576+54_*6576+55insTCT
ENST00000703539.1:n.3167+54_3167+55insTCT
ENST00000703540.1:c.6706+54_6706+55insTCT	ENSP00000515362.1:n.6706+54_6706+55insTCT
ENST00000703541.1:c.6718+54_6718+55insTCT	ENSP00000515363.1:n.6718+54_6718+55insTCT
ENST00000304992.11:c.6853+54_6853+55insTCT MANE Select	ENSP00000304350.6:n.6853+54_6853+55insTCT
ENST00000304992.10:c.6853+54_6853+55insTCT	ENSP00000304350.6:n.6853+54_6853+55insTCT
ENST00000571958.1:c.162+54_162+55insTCT
ENST00000572621.5:c.6853+54_6853+55insTCT	ENSP00000460348.1:n.6853+54_6853+55insTCT
ENST00000572723.1:n.842+54_842+55insTCT
NM_006445.3:c.6853+54_6853+55insTCT	NP_006436.3:n.6853+54_6853+55insTCT
XM_024450537.1:c.6853+54_6853+55insTCT	XP_024306305.1:n.6853+54_6853+55insTCT
NM_006445.4:c.6853+54_6853+55insTCT MANE Select	NP_006436.3:n.6853+54_6853+55insTCT