Canonical Allele Identifier: CA1143518218

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346595_150346601delinsTAGATAG , CM000663.2:g.150346595_150346601delinsTAGATAG	GRCh38
NC_000001.10:g.150319071_150319077delinsTAGATAG , CM000663.1:g.150319071_150319077delinsTAGATAG	GRCh37
NC_000001.9:g.148585695_148585701delinsTAGATAG	NCBI36
NG_008245.1:g.30144_30150delinsTAGATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+104_1843+110delinsTAGATAG MANE Select	ENSP00000315379.6:n.1843+104_1843+110delinsTAGATAG
ENST00000324862.6:c.1843+104_1843+110delinsTAGATAG	ENSP00000315379.6:n.1843+104_1843+110delinsTAGATAG
ENST00000467329.5:n.2170+104_2170+110delinsTAGATAG
ENST00000476970.1:n.952+104_952+110delinsTAGATAG
NM_004698.2:c.1843+104_1843+110delinsTAGATAG	NP_004689.1:n.1843+104_1843+110delinsTAGATAG
XM_011510128.1:c.1853+94_1853+100delinsTAGATAG	XP_011508430.1:n.1853+94_1853+100delinsTAGATAG
XM_011510129.1:c.1438+104_1438+110delinsTAGATAG	XP_011508431.1:n.1438+104_1438+110delinsTAGATAG
XM_011510130.1:c.1411+104_1411+110delinsTAGATAG	XP_011508432.1:n.1411+104_1411+110delinsTAGATAG
XR_241103.1:n.1826+104_1826+110delinsTAGATAG
XR_921997.1:n.1836+94_1836+100delinsTAGATAG
XR_921998.1:n.1940+104_1940+110delinsTAGATAG
NM_001350529.1:c.1438+104_1438+110delinsTAGATAG	NP_001337458.1:n.1438+104_1438+110delinsTAGATAG
NM_004698.3:c.1843+104_1843+110delinsTAGATAG	NP_004689.1:n.1843+104_1843+110delinsTAGATAG
NR_146766.1:n.2074+104_2074+110delinsTAGATAG
NR_146767.1:n.2170+104_2170+110delinsTAGATAG
NR_146768.1:n.2026+94_2026+100delinsTAGATAG
NR_146769.1:n.2079+94_2079+100delinsTAGATAG
XM_011510130.3:c.1411+104_1411+110delinsTAGATAG	XP_011508432.1:n.1411+104_1411+110delinsTAGATAG
XM_017002790.1:c.1411+104_1411+110delinsTAGATAG	XP_016858279.1:n.1411+104_1411+110delinsTAGATAG
XR_001737536.2:n.1876+104_1876+110delinsTAGATAG
XR_001737537.2:n.1990+104_1990+110delinsTAGATAG
XR_001737540.2:n.2747+104_2747+110delinsTAGATAG
XR_001737541.2:n.1770+104_1770+110delinsTAGATAG
XR_002958009.1:n.2500+104_2500+110delinsTAGATAG
XR_002958010.1:n.3746+94_3746+100delinsTAGATAG
XR_002958012.1:n.1942+94_1942+100delinsTAGATAG
XR_241103.3:n.1818+104_1818+110delinsTAGATAG
XR_921997.3:n.1828+94_1828+100delinsTAGATAG
XR_921998.3:n.1932+104_1932+110delinsTAGATAG
NM_004698.4:c.1843+104_1843+110delinsTAGATAG MANE Select	NP_004689.1:n.1843+104_1843+110delinsTAGATAG