Canonical Allele Identifier: CA8271097

Gene: PRPF8

Linked Data

• dbSNP Id: rs776470683
• ExAC: 17:1554474 TC / T
• gnomAD v2: 17-1554474-TC-T
• gnomAD v4: 17-1651180-TC-T
• MyVariant Identifiers: chr17:g.1554475del (hg19) ; chr17:g.1651181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651181del , CM000679.2:g.1651181del	GRCh38
NC_000017.10:g.1554475del , CM000679.1:g.1554475del	GRCh37
NC_000017.9:g.1501225del	NCBI36
NG_009118.1:g.38702del
NG_033061.1:g.3918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6600del	ENSP00000460849.2:p.Met2201CysfsTer?
ENST00000703537.1:c.2528del
ENST00000703538.1:c.*6503del	ENSP00000515361.1:n.*6503del
ENST00000703539.1:n.3094del
ENST00000703540.1:c.6633del	ENSP00000515362.1:p.Met2212CysfsTer?
ENST00000703541.1:c.6645del	ENSP00000515363.1:p.Met2216CysfsTer?
ENST00000304992.11:c.6780del MANE Select	ENSP00000304350.6:p.Met2261CysfsTer?
ENST00000304992.10:c.6780del	ENSP00000304350.6:p.Met2261CysfsTer?
ENST00000571958.1:c.89del
ENST00000572621.5:c.6780del	ENSP00000460348.1:p.Met2261CysfsTer?
ENST00000572723.1:n.769del
NM_006445.3:c.6780del	NP_006436.3:p.Met2261CysfsTer?
XM_024450537.1:c.6780del	XP_024306305.1:p.Met2261CysfsTer?
NM_006445.4:c.6780del MANE Select	NP_006436.3:p.Met2261CysfsTer?