Canonical Allele Identifier: CA889225579

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150324890_150324892dup , CM000663.2:g.150324890_150324892dup	GRCh38
NC_000001.10:g.150297348_150297350dup , CM000663.1:g.150297348_150297350dup	GRCh37
NC_000001.9:g.148563972_148563974dup	NCBI36
NG_008245.1:g.8421_8423dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.-48-5_-48-3dup MANE Select	NP_004689.1:n.-48-5_-48-3dup
ENST00000324862.7:c.-48-5_-48-3dup MANE Select	ENSP00000315379.6:n.-48-5_-48-3dup
NM_001350529.1:c.-549-5_-549-3dup	NP_001337458.1:n.-549-5_-549-3dup
NM_004698.2:c.-48-5_-48-3dup	NP_004689.1:n.-48-5_-48-3dup
NM_004698.3:c.-48-5_-48-3dup	NP_004689.1:n.-48-5_-48-3dup
NR_146766.1:n.126-5_126-3dup
NR_146767.1:n.126-5_126-3dup
NR_146768.1:n.126-5_126-3dup
NR_146769.1:n.126-5_126-3dup
ENST00000324862.6:c.-48-5_-48-3dup	ENSP00000315379.6:n.-48-5_-48-3dup
ENST00000496202.5:n.115-5_115-3dup
XM_011510128.1:c.-48-5_-48-3dup	XP_011508430.1:n.-48-5_-48-3dup
XM_011510129.1:c.-549-5_-549-3dup	XP_011508431.1:n.-549-5_-549-3dup
XM_011510131.1:c.-48-5_-48-3dup	XP_011508433.1:n.-48-5_-48-3dup
XM_011510131.3:c.-48-5_-48-3dup	XP_011508433.1:n.-48-5_-48-3dup
XM_011510132.1:c.-48-5_-48-3dup	XP_011508434.1:n.-48-5_-48-3dup
XM_011510132.3:c.-48-5_-48-3dup	XP_011508434.1:n.-48-5_-48-3dup
XM_017002791.2:c.-48-5_-48-3dup	XP_016858280.1:n.-48-5_-48-3dup
XR_001737536.2:n.47-5_47-3dup
XR_001737537.2:n.47-5_47-3dup
XR_001737541.2:n.47-5_47-3dup
XR_002958009.1:n.552-5_552-3dup
XR_002958010.1:n.47-5_47-3dup
XR_002958012.1:n.47-5_47-3dup
XR_241103.1:n.55-5_55-3dup
XR_241103.3:n.47-5_47-3dup
XR_241104.1:n.55-5_55-3dup
XR_921997.1:n.55-5_55-3dup
XR_921997.3:n.47-5_47-3dup
XR_921998.1:n.55-5_55-3dup
XR_921998.3:n.47-5_47-3dup