Canonical Allele Identifier: CA2746071789

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346626_150346629del , CM000663.2:g.150346626_150346629del	GRCh38
NC_000001.10:g.150319102_150319105del , CM000663.1:g.150319102_150319105del	GRCh37
NC_000001.9:g.148585726_148585729del	NCBI36
NG_008245.1:g.30175_30178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+135_1843+138del MANE Select	ENSP00000315379.6:n.1843+135_1843+138del
ENST00000324862.6:c.1843+135_1843+138del	ENSP00000315379.6:n.1843+135_1843+138del
ENST00000467329.5:n.2170+135_2170+138del
ENST00000476970.1:n.952+135_952+138del
NM_004698.2:c.1843+135_1843+138del	NP_004689.1:n.1843+135_1843+138del
XM_011510128.1:c.1853+125_1853+128del	XP_011508430.1:n.1853+125_1853+128del
XM_011510129.1:c.1438+135_1438+138del	XP_011508431.1:n.1438+135_1438+138del
XM_011510130.1:c.1411+135_1411+138del	XP_011508432.1:n.1411+135_1411+138del
XR_241103.1:n.1826+135_1826+138del
XR_921997.1:n.1836+125_1836+128del
XR_921998.1:n.1940+135_1940+138del
NM_001350529.1:c.1438+135_1438+138del	NP_001337458.1:n.1438+135_1438+138del
NM_004698.3:c.1843+135_1843+138del	NP_004689.1:n.1843+135_1843+138del
NR_146766.1:n.2074+135_2074+138del
NR_146767.1:n.2170+135_2170+138del
NR_146768.1:n.2026+125_2026+128del
NR_146769.1:n.2079+125_2079+128del
XM_011510130.3:c.1411+135_1411+138del	XP_011508432.1:n.1411+135_1411+138del
XM_017002790.1:c.1411+135_1411+138del	XP_016858279.1:n.1411+135_1411+138del
XR_001737536.2:n.1876+135_1876+138del
XR_001737537.2:n.1990+135_1990+138del
XR_001737540.2:n.2747+135_2747+138del
XR_001737541.2:n.1770+135_1770+138del
XR_002958009.1:n.2500+135_2500+138del
XR_002958010.1:n.3746+125_3746+128del
XR_002958012.1:n.1942+125_1942+128del
XR_241103.3:n.1818+135_1818+138del
XR_921997.3:n.1828+125_1828+128del
XR_921998.3:n.1932+135_1932+138del
NM_004698.4:c.1843+135_1843+138del MANE Select	NP_004689.1:n.1843+135_1843+138del