Canonical Allele Identifier: CA624564864

Gene: PRPF8

Linked Data

• dbSNP Id: rs1314067185
• gnomAD v2: 17-1554072-CTGAAGCAGGAGGCAGGGA-C
• gnomAD v4: 17-1650778-CTGAAGCAGGAGGCAGGGA-C
• MyVariant Identifiers: chr17:g.1554073_1554090del (hg19) ; chr17:g.1650779_1650796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650779_1650796del , CM000679.2:g.1650779_1650796del	GRCh38
NC_000017.10:g.1554073_1554090del , CM000679.1:g.1554073_1554090del	GRCh37
NC_000017.9:g.1500823_1500840del	NCBI36
NG_009118.1:g.39087_39104del
NG_033061.1:g.4303_4320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*6_*23del	ENSP00000460849.2:n.*6_*23del
ENST00000703537.1:c.2762_2779del
ENST00000703538.1:c.*6737_*6754del	ENSP00000515361.1:n.*6737_*6754del
ENST00000703539.1:n.3328_3345del
ENST00000703540.1:c.*6_*23del	ENSP00000515362.1:n.*6_*23del
ENST00000304992.11:c.*6_*23del MANE Select	ENSP00000304350.6:n.*6_*23del
ENST00000304992.10:c.*6_*23del	ENSP00000304350.6:n.*6_*23del
ENST00000571958.1:c.213_230del
ENST00000572621.5:c.*6_*23del	ENSP00000460348.1:n.*6_*23del
NM_006445.3:c.*6_*23del	NP_006436.3:n.*6_*23del
XM_024450537.1:c.*6_*23del	XP_024306305.1:n.*6_*23del
NM_006445.4:c.*6_*23del MANE Select	NP_006436.3:n.*6_*23del