Canonical Allele Identifier: CA2242977518

Gene: PRPF8

Linked Data

• dbSNP Id: rs1911016367
• gnomAD v4: 17-1650989-GGGCTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650991_1650997del , CM000679.2:g.1650991_1650997del	GRCh38
NC_000017.10:g.1554285_1554291del , CM000679.1:g.1554285_1554291del	GRCh37
NC_000017.9:g.1501035_1501041del	NCBI36
NG_009118.1:g.38887_38893del
NG_033061.1:g.4103_4109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-40_6674-34del	ENSP00000460849.2:n.6674-40_6674-34del
ENST00000703537.1:c.2602-40_2602-34del
ENST00000703538.1:c.*6577-40_*6577-34del	ENSP00000515361.1:n.*6577-40_*6577-34del
ENST00000703539.1:n.3168-40_3168-34del
ENST00000703540.1:c.6707-40_6707-34del	ENSP00000515362.1:n.6707-40_6707-34del
ENST00000703541.1:c.6719-40_6719-34del	ENSP00000515363.1:n.6719-40_6719-34del
ENST00000304992.11:c.6854-40_6854-34del MANE Select	ENSP00000304350.6:n.6854-40_6854-34del
ENST00000304992.10:c.6854-40_6854-34del	ENSP00000304350.6:n.6854-40_6854-34del
ENST00000571958.1:c.162+112_162+118del
ENST00000572621.5:c.6854-40_6854-34del	ENSP00000460348.1:n.6854-40_6854-34del
ENST00000572723.1:n.843-40_843-34del
NM_006445.3:c.6854-40_6854-34del	NP_006436.3:n.6854-40_6854-34del
XM_024450537.1:c.6854-40_6854-34del	XP_024306305.1:n.6854-40_6854-34del
NM_006445.4:c.6854-40_6854-34del MANE Select	NP_006436.3:n.6854-40_6854-34del