Canonical Allele Identifier: CA2695224070

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650833_1650838delinsAGCAGAGGGTT , CM000679.2:g.1650833_1650838delinsAGCAGAGGGTT	GRCh38
NC_000017.10:g.1554127_1554132delinsAGCAGAGGGTT , CM000679.1:g.1554127_1554132delinsAGCAGAGGGTT	GRCh37
NC_000017.9:g.1500877_1500882delinsAGCAGAGGGTT	NCBI36
NG_009118.1:g.39045_39050delinsAACCCTCTGCT
NG_033061.1:g.4261_4266delinsAACCCTCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6792_6797delinsAACCCTCTGCT	ENSP00000460849.2:p.Val2265ThrfsTer?
ENST00000703537.1:c.2720_2725delinsAACCCTCTGCT
ENST00000703538.1:c.*6695_*6700delinsAACCCTCTGCT	ENSP00000515361.1:n.*6695_*6700delinsAACCCTCTGCT
ENST00000703539.1:n.3286_3291delinsAACCCTCTGCT
ENST00000703540.1:c.6825_6830delinsAACCCTCTGCT	ENSP00000515362.1:p.Val2276ThrfsTer?
ENST00000703541.1:c.6837_6842delinsAACCCTCTGCT	ENSP00000515363.1:p.Val2280ThrfsTer?
ENST00000304992.11:c.6972_6977delinsAACCCTCTGCT MANE Select	ENSP00000304350.6:p.Val2325ThrfsTer?
ENST00000304992.10:c.6972_6977delinsAACCCTCTGCT	ENSP00000304350.6:p.Val2325ThrfsTer?
ENST00000571958.1:c.171_176delinsAACCCTCTGCT
ENST00000572621.5:c.6972_6977delinsAACCCTCTGCT	ENSP00000460348.1:p.Val2325ThrfsTer?
NM_006445.3:c.6972_6977delinsAACCCTCTGCT	NP_006436.3:p.Val2325ThrfsTer?
XM_024450537.1:c.6972_6977delinsAACCCTCTGCT	XP_024306305.1:p.Val2325ThrfsTer?
NM_006445.4:c.6972_6977delinsAACCCTCTGCT MANE Select	NP_006436.3:p.Val2325ThrfsTer?