Canonical Allele Identifier: CA2635248150

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650669-TGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650670_1650672del , CM000679.2:g.1650670_1650672del	GRCh38
NC_000017.10:g.1553964_1553966del , CM000679.1:g.1553964_1553966del	GRCh37
NC_000017.9:g.1500714_1500716del	NCBI36
NG_009118.1:g.39211_39213del
NG_033061.1:g.4427_4429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*130_*132del	ENSP00000460849.2:n.*130_*132del
ENST00000703537.1:c.2886_2888del
ENST00000703538.1:c.*6861_*6863del	ENSP00000515361.1:n.*6861_*6863del
ENST00000703539.1:n.3452_3454del
ENST00000703540.1:c.*130_*132del	ENSP00000515362.1:n.*130_*132del
ENST00000304992.11:c.*130_*132del MANE Select	ENSP00000304350.6:n.*130_*132del
ENST00000304992.10:c.*130_*132del	ENSP00000304350.6:n.*130_*132del
ENST00000571958.1:c.337_339del
ENST00000572621.5:c.*130_*132del	ENSP00000460348.1:n.*130_*132del
NM_006445.3:c.*130_*132del	NP_006436.3:n.*130_*132del
XM_024450537.1:c.*130_*132del	XP_024306305.1:n.*130_*132del
NM_006445.4:c.*130_*132del MANE Select	NP_006436.3:n.*130_*132del