Canonical Allele Identifier: CA2808190828

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651050_1651051insACA , CM000679.2:g.1651050_1651051insACA	GRCh38
NC_000017.10:g.1554344_1554345insACA , CM000679.1:g.1554344_1554345insACA	GRCh37
NC_000017.9:g.1501094_1501095insACA	NCBI36
NG_009118.1:g.38832_38833insTGT
NG_033061.1:g.4048_4049insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+57_6673+58insTGT	ENSP00000460849.2:n.6673+57_6673+58insTGT
ENST00000703537.1:c.2601+57_2601+58insTGT
ENST00000703538.1:c.*6576+57_*6576+58insTGT	ENSP00000515361.1:n.*6576+57_*6576+58insTGT
ENST00000703539.1:n.3167+57_3167+58insTGT
ENST00000703540.1:c.6706+57_6706+58insTGT	ENSP00000515362.1:n.6706+57_6706+58insTGT
ENST00000703541.1:c.6718+57_6718+58insTGT	ENSP00000515363.1:n.6718+57_6718+58insTGT
ENST00000304992.11:c.6853+57_6853+58insTGT MANE Select	ENSP00000304350.6:n.6853+57_6853+58insTGT
ENST00000304992.10:c.6853+57_6853+58insTGT	ENSP00000304350.6:n.6853+57_6853+58insTGT
ENST00000571958.1:c.162+57_162+58insTGT
ENST00000572621.5:c.6853+57_6853+58insTGT	ENSP00000460348.1:n.6853+57_6853+58insTGT
ENST00000572723.1:n.842+57_842+58insTGT
NM_006445.3:c.6853+57_6853+58insTGT	NP_006436.3:n.6853+57_6853+58insTGT
XM_024450537.1:c.6853+57_6853+58insTGT	XP_024306305.1:n.6853+57_6853+58insTGT
NM_006445.4:c.6853+57_6853+58insTGT MANE Select	NP_006436.3:n.6853+57_6853+58insTGT