Canonical Allele Identifier: CA286849758

Gene: PRPF8

Linked Data

• dbSNP Id: rs139564103
• MyVariant Identifiers: chr17:g.1554267_1554268insC (hg19) ; chr17:g.1650973_1650974insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650974dup , CM000679.2:g.1650974dup	GRCh38
NC_000017.10:g.1554268dup , CM000679.1:g.1554268dup	GRCh37
NC_000017.9:g.1501018dup	NCBI36
NG_009118.1:g.38909dup
NG_033061.1:g.4125dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-18dup	ENSP00000460849.2:n.6674-18dup
ENST00000703537.1:c.2602-18dup
ENST00000703538.1:c.*6577-18dup	ENSP00000515361.1:n.*6577-18dup
ENST00000703539.1:n.3168-18dup
ENST00000703540.1:c.6707-18dup	ENSP00000515362.1:n.6707-18dup
ENST00000703541.1:c.6719-18dup	ENSP00000515363.1:n.6719-18dup
ENST00000304992.11:c.6854-18dup MANE Select	ENSP00000304350.6:n.6854-18dup
ENST00000304992.10:c.6854-18dup	ENSP00000304350.6:n.6854-18dup
ENST00000571958.1:c.163-128dup
ENST00000572621.5:c.6854-18dup	ENSP00000460348.1:n.6854-18dup
ENST00000572723.1:n.843-18dup
NM_006445.3:c.6854-18dup	NP_006436.3:n.6854-18dup
XM_024450537.1:c.6854-18dup	XP_024306305.1:n.6854-18dup
NM_006445.4:c.6854-18dup MANE Select	NP_006436.3:n.6854-18dup