Canonical Allele Identifier: CA2746071775

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346598dup , CM000663.2:g.150346598dup	GRCh38
NC_000001.10:g.150319074dup , CM000663.1:g.150319074dup	GRCh37
NC_000001.9:g.148585698dup	NCBI36
NG_008245.1:g.30147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+107dup MANE Select	ENSP00000315379.6:n.1843+107dup
ENST00000324862.6:c.1843+107dup	ENSP00000315379.6:n.1843+107dup
ENST00000467329.5:n.2170+107dup
ENST00000476970.1:n.952+107dup
NM_004698.2:c.1843+107dup	NP_004689.1:n.1843+107dup
XM_011510128.1:c.1853+97dup	XP_011508430.1:n.1853+97dup
XM_011510129.1:c.1438+107dup	XP_011508431.1:n.1438+107dup
XM_011510130.1:c.1411+107dup	XP_011508432.1:n.1411+107dup
XR_241103.1:n.1826+107dup
XR_921997.1:n.1836+97dup
XR_921998.1:n.1940+107dup
NM_001350529.1:c.1438+107dup	NP_001337458.1:n.1438+107dup
NM_004698.3:c.1843+107dup	NP_004689.1:n.1843+107dup
NR_146766.1:n.2074+107dup
NR_146767.1:n.2170+107dup
NR_146768.1:n.2026+97dup
NR_146769.1:n.2079+97dup
XM_011510130.3:c.1411+107dup	XP_011508432.1:n.1411+107dup
XM_017002790.1:c.1411+107dup	XP_016858279.1:n.1411+107dup
XR_001737536.2:n.1876+107dup
XR_001737537.2:n.1990+107dup
XR_001737540.2:n.2747+107dup
XR_001737541.2:n.1770+107dup
XR_002958009.1:n.2500+107dup
XR_002958010.1:n.3746+97dup
XR_002958012.1:n.1942+97dup
XR_241103.3:n.1818+107dup
XR_921997.3:n.1828+97dup
XR_921998.3:n.1932+107dup
NM_004698.4:c.1843+107dup MANE Select	NP_004689.1:n.1843+107dup