Canonical Allele Identifier: CA2746071767

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346576_150346578del , CM000663.2:g.150346576_150346578del	GRCh38
NC_000001.10:g.150319052_150319054del , CM000663.1:g.150319052_150319054del	GRCh37
NC_000001.9:g.148585676_148585678del	NCBI36
NG_008245.1:g.30125_30127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+85_1843+87del MANE Select	ENSP00000315379.6:n.1843+85_1843+87del
ENST00000324862.6:c.1843+85_1843+87del	ENSP00000315379.6:n.1843+85_1843+87del
ENST00000467329.5:n.2170+85_2170+87del
ENST00000476970.1:n.952+85_952+87del
NM_004698.2:c.1843+85_1843+87del	NP_004689.1:n.1843+85_1843+87del
XM_011510128.1:c.1853+75_1853+77del	XP_011508430.1:n.1853+75_1853+77del
XM_011510129.1:c.1438+85_1438+87del	XP_011508431.1:n.1438+85_1438+87del
XM_011510130.1:c.1411+85_1411+87del	XP_011508432.1:n.1411+85_1411+87del
XR_241103.1:n.1826+85_1826+87del
XR_921997.1:n.1836+75_1836+77del
XR_921998.1:n.1940+85_1940+87del
NM_001350529.1:c.1438+85_1438+87del	NP_001337458.1:n.1438+85_1438+87del
NM_004698.3:c.1843+85_1843+87del	NP_004689.1:n.1843+85_1843+87del
NR_146766.1:n.2074+85_2074+87del
NR_146767.1:n.2170+85_2170+87del
NR_146768.1:n.2026+75_2026+77del
NR_146769.1:n.2079+75_2079+77del
XM_011510130.3:c.1411+85_1411+87del	XP_011508432.1:n.1411+85_1411+87del
XM_017002790.1:c.1411+85_1411+87del	XP_016858279.1:n.1411+85_1411+87del
XR_001737536.2:n.1876+85_1876+87del
XR_001737537.2:n.1990+85_1990+87del
XR_001737540.2:n.2747+85_2747+87del
XR_001737541.2:n.1770+85_1770+87del
XR_002958009.1:n.2500+85_2500+87del
XR_002958010.1:n.3746+75_3746+77del
XR_002958012.1:n.1942+75_1942+77del
XR_241103.3:n.1818+85_1818+87del
XR_921997.3:n.1828+75_1828+77del
XR_921998.3:n.1932+85_1932+87del
NM_004698.4:c.1843+85_1843+87del MANE Select	NP_004689.1:n.1843+85_1843+87del