Canonical Allele Identifier: CA726482015

Gene: PRPF8

Linked Data

• dbSNP Id: rs1201355681
• gnomAD v3: 17-1650687-TCAA-T
• gnomAD v4: 17-1650687-TCAA-T
• MyVariant Identifiers: chr17:g.1553982_1553984del (hg19) ; chr17:g.1650688_1650690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650693_1650695del , CM000679.2:g.1650693_1650695del	GRCh38
NC_000017.10:g.1553987_1553989del , CM000679.1:g.1553987_1553989del	GRCh37
NC_000017.9:g.1500737_1500739del	NCBI36
NG_009118.1:g.39193_39195del
NG_033061.1:g.4409_4411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*112_*114del	ENSP00000460849.2:n.*112_*114del
ENST00000703537.1:c.2868_2870del
ENST00000703538.1:c.*6843_*6845del	ENSP00000515361.1:n.*6843_*6845del
ENST00000703539.1:n.3434_3436del
ENST00000703540.1:c.*112_*114del	ENSP00000515362.1:n.*112_*114del
ENST00000304992.11:c.*112_*114del MANE Select	ENSP00000304350.6:n.*112_*114del
ENST00000304992.10:c.*112_*114del	ENSP00000304350.6:n.*112_*114del
ENST00000571958.1:c.319_321del
ENST00000572621.5:c.*112_*114del	ENSP00000460348.1:n.*112_*114del
NM_006445.3:c.*112_*114del	NP_006436.3:n.*112_*114del
XM_024450537.1:c.*112_*114del	XP_024306305.1:n.*112_*114del
NM_006445.4:c.*112_*114del MANE Select	NP_006436.3:n.*112_*114del