Canonical Allele Identifier: CA2635248591

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650883-GTGCACCTCGTGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650884_1650896del , CM000679.2:g.1650884_1650896del	GRCh38
NC_000017.10:g.1554178_1554190del , CM000679.1:g.1554178_1554190del	GRCh37
NC_000017.9:g.1500928_1500940del	NCBI36
NG_009118.1:g.38987_38999del
NG_033061.1:g.4203_4215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6734_6746del	ENSP00000460849.2:p.Tyr2245SerfsTer?
ENST00000703537.1:c.2662_2674del
ENST00000703538.1:c.*6637_*6649del	ENSP00000515361.1:n.*6637_*6649del
ENST00000703539.1:n.3228_3240del
ENST00000703540.1:c.6767_6779del	ENSP00000515362.1:p.Tyr2256SerfsTer?
ENST00000703541.1:c.6779_6791del	ENSP00000515363.1:p.Tyr2260SerfsTer?
ENST00000304992.11:c.6914_6926del MANE Select	ENSP00000304350.6:p.Tyr2305SerfsTer?
ENST00000304992.10:c.6914_6926del	ENSP00000304350.6:p.Tyr2305SerfsTer?
ENST00000571958.1:c.163-50_163-38del
ENST00000572621.5:c.6914_6926del	ENSP00000460348.1:p.Tyr2305SerfsTer?
ENST00000572723.1:n.903_915del
NM_006445.3:c.6914_6926del	NP_006436.3:p.Tyr2305SerfsTer?
XM_024450537.1:c.6914_6926del	XP_024306305.1:p.Tyr2305SerfsTer?
NM_006445.4:c.6914_6926del MANE Select	NP_006436.3:p.Tyr2305SerfsTer?