Canonical Allele Identifier: CA2635248639

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650906-T-TGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650907_1650910dup , CM000679.2:g.1650907_1650910dup	GRCh38
NC_000017.10:g.1554201_1554204dup , CM000679.1:g.1554201_1554204dup	GRCh37
NC_000017.9:g.1500951_1500954dup	NCBI36
NG_009118.1:g.38973_38976dup
NG_033061.1:g.4189_4192dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6720_6723dup	ENSP00000460849.2:p.Lys2242ProfsTer?
ENST00000703537.1:c.2648_2651dup
ENST00000703538.1:c.*6623_*6626dup	ENSP00000515361.1:n.*6623_*6626dup
ENST00000703539.1:n.3214_3217dup
ENST00000703540.1:c.6753_6756dup	ENSP00000515362.1:p.Lys2253ProfsTer?
ENST00000703541.1:c.6765_6768dup	ENSP00000515363.1:p.Lys2257ProfsTer?
ENST00000304992.11:c.6900_6903dup MANE Select	ENSP00000304350.6:p.Lys2302ProfsTer?
ENST00000304992.10:c.6900_6903dup	ENSP00000304350.6:p.Lys2302ProfsTer?
ENST00000571958.1:c.163-64_163-61dup
ENST00000572621.5:c.6900_6903dup	ENSP00000460348.1:p.Lys2302ProfsTer?
ENST00000572723.1:n.889_892dup
NM_006445.3:c.6900_6903dup	NP_006436.3:p.Lys2302ProfsTer?
XM_024450537.1:c.6900_6903dup	XP_024306305.1:p.Lys2302ProfsTer?
NM_006445.4:c.6900_6903dup MANE Select	NP_006436.3:p.Lys2302ProfsTer?