Canonical Allele Identifier: CA2635248629

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650903-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650905_1650906del , CM000679.2:g.1650905_1650906del	GRCh38
NC_000017.10:g.1554199_1554200del , CM000679.1:g.1554199_1554200del	GRCh37
NC_000017.9:g.1500949_1500950del	NCBI36
NG_009118.1:g.38978_38979del
NG_033061.1:g.4194_4195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6725_6726del	ENSP00000460849.2:p.Lys2242ArgfsTer?
ENST00000703537.1:c.2653_2654del
ENST00000703538.1:c.*6628_*6629del	ENSP00000515361.1:n.*6628_*6629del
ENST00000703539.1:n.3219_3220del
ENST00000703540.1:c.6758_6759del	ENSP00000515362.1:p.Lys2253ArgfsTer?
ENST00000703541.1:c.6770_6771del	ENSP00000515363.1:p.Lys2257ArgfsTer?
ENST00000304992.11:c.6905_6906del MANE Select	ENSP00000304350.6:p.Lys2302ArgfsTer?
ENST00000304992.10:c.6905_6906del	ENSP00000304350.6:p.Lys2302ArgfsTer?
ENST00000571958.1:c.163-59_163-58del
ENST00000572621.5:c.6905_6906del	ENSP00000460348.1:p.Lys2302ArgfsTer?
ENST00000572723.1:n.894_895del
NM_006445.3:c.6905_6906del	NP_006436.3:p.Lys2302ArgfsTer?
XM_024450537.1:c.6905_6906del	XP_024306305.1:p.Lys2302ArgfsTer?
NM_006445.4:c.6905_6906del MANE Select	NP_006436.3:p.Lys2302ArgfsTer?