Canonical Allele Identifier: CA2242976932

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650645_1650648delinsTTTA , CM000679.2:g.1650645_1650648delinsTTTA	GRCh38
NC_000017.10:g.1553939_1553942delinsTTTA , CM000679.1:g.1553939_1553942delinsTTTA	GRCh37
NC_000017.9:g.1500689_1500692delinsTTTA	NCBI36
NG_009118.1:g.39235_39238delinsTAAA
NG_033061.1:g.4451_4454delinsTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304992.11:c.*154_*157delinsTAAA MANE Select	ENSP00000304350.6:n.*154_*157delinsTAAA
ENST00000304992.10:c.*154_*157delinsTAAA	ENSP00000304350.6:n.*154_*157delinsTAAA
ENST00000571958.1:c.361_364delinsTAAA
ENST00000572621.5:c.*154_*157delinsTAAA	ENSP00000460348.1:n.*154_*157delinsTAAA
NM_006445.3:c.*154_*157delinsTAAA	NP_006436.3:n.*154_*157delinsTAAA
XM_024450537.1:c.*154_*157delinsTAAA	XP_024306305.1:n.*154_*157delinsTAAA
NM_006445.4:c.*154_*157delinsTAAA MANE Select	NP_006436.3:n.*154_*157delinsTAAA