Canonical Allele Identifier: CA2580092430

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2013491
• ClinVar RCV Id: RCV002834707

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650776_1650808del , CM000679.2:g.1650776_1650808del	GRCh38
NC_000017.10:g.1554070_1554102del , CM000679.1:g.1554070_1554102del	GRCh37
NC_000017.9:g.1500820_1500852del	NCBI36
NG_009118.1:g.39076_39108del
NG_033061.1:g.4292_4324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6823_*27del	ENSP00000460849.2:n.[c.6823_*27del;Ala2275ProfsTer?]
ENST00000703537.1:c.2751_2783del
ENST00000703538.1:c.*6726_*6758del	ENSP00000515361.1:n.*6726_*6758del
ENST00000703539.1:n.3317_3349del
ENST00000703540.1:c.6856_*27del	ENSP00000515362.1:n.[c.6856_*27del;Ala2286ProfsTer?]
ENST00000304992.11:c.7003_*27del MANE Select	ENSP00000304350.6:n.[c.7003_*27del;Ala2335ProfsTer?]
ENST00000304992.10:c.7003_*27del	ENSP00000304350.6:n.[c.7003_*27del;Ala2335ProfsTer?]
ENST00000571958.1:c.202_234del
ENST00000572621.5:c.7003_*27del	ENSP00000460348.1:n.[c.7003_*27del;Ala2335ProfsTer?]
NM_006445.3:c.7003_*27del	NP_006436.3:n.[c.7003_*27del;Ala2335ProfsTer?]
XM_024450537.1:c.7003_*27del	XP_024306305.1:n.[c.7003_*27del;Ala2335ProfsTer?]
NM_006445.4:c.7003_*27del MANE Select	NP_006436.3:n.[c.7003_*27del;Ala2335ProfsTer?]