Canonical Allele Identifier: CA2746071747

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346521dup , CM000663.2:g.150346521dup	GRCh38
NC_000001.10:g.150318997dup , CM000663.1:g.150318997dup	GRCh37
NC_000001.9:g.148585621dup	NCBI36
NG_008245.1:g.30070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+30dup MANE Select	ENSP00000315379.6:n.1843+30dup
ENST00000324862.6:c.1843+30dup	ENSP00000315379.6:n.1843+30dup
ENST00000467329.5:n.2170+30dup
ENST00000476970.1:n.952+30dup
NM_004698.2:c.1843+30dup	NP_004689.1:n.1843+30dup
XM_011510128.1:c.1853+20dup	XP_011508430.1:n.1853+20dup
XM_011510129.1:c.1438+30dup	XP_011508431.1:n.1438+30dup
XM_011510130.1:c.1411+30dup	XP_011508432.1:n.1411+30dup
XR_241103.1:n.1826+30dup
XR_921997.1:n.1836+20dup
XR_921998.1:n.1940+30dup
NM_001350529.1:c.1438+30dup	NP_001337458.1:n.1438+30dup
NM_004698.3:c.1843+30dup	NP_004689.1:n.1843+30dup
NR_146766.1:n.2074+30dup
NR_146767.1:n.2170+30dup
NR_146768.1:n.2026+20dup
NR_146769.1:n.2079+20dup
XM_011510130.3:c.1411+30dup	XP_011508432.1:n.1411+30dup
XM_017002790.1:c.1411+30dup	XP_016858279.1:n.1411+30dup
XR_001737536.2:n.1876+30dup
XR_001737537.2:n.1990+30dup
XR_001737540.2:n.2747+30dup
XR_001737541.2:n.1770+30dup
XR_002958009.1:n.2500+30dup
XR_002958010.1:n.3746+20dup
XR_002958012.1:n.1942+20dup
XR_241103.3:n.1818+30dup
XR_921997.3:n.1828+20dup
XR_921998.3:n.1932+30dup
NM_004698.4:c.1843+30dup MANE Select	NP_004689.1:n.1843+30dup