Canonical Allele Identifier: CA624564878

Gene: PRPF8

Linked Data

• dbSNP Id: rs1302401999
• gnomAD v2: 17-1554093-C-CG
• gnomAD v4: 17-1650799-C-CG
• MyVariant Identifiers: chr17:g.1554093_1554094insG (hg19) ; chr17:g.1650799_1650800insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650801dup , CM000679.2:g.1650801dup	GRCh38
NC_000017.10:g.1554095dup , CM000679.1:g.1554095dup	GRCh37
NC_000017.9:g.1500845dup	NCBI36
NG_009118.1:g.39083dup
NG_033061.1:g.4299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*2dup	ENSP00000460849.2:n.*2dup
ENST00000703537.1:c.2758dup
ENST00000703538.1:c.*6733dup	ENSP00000515361.1:n.*6733dup
ENST00000703539.1:n.3324dup
ENST00000703540.1:c.*2dup	ENSP00000515362.1:n.*2dup
ENST00000304992.11:c.*2dup MANE Select	ENSP00000304350.6:n.*2dup
ENST00000304992.10:c.*2dup	ENSP00000304350.6:n.*2dup
ENST00000571958.1:c.209dup
ENST00000572621.5:c.*2dup	ENSP00000460348.1:n.*2dup
NM_006445.3:c.*2dup	NP_006436.3:n.*2dup
XM_024450537.1:c.*2dup	XP_024306305.1:n.*2dup
NM_006445.4:c.*2dup MANE Select	NP_006436.3:n.*2dup