Canonical Allele Identifier: CA2746071778

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346605_150346619del , CM000663.2:g.150346605_150346619del	GRCh38
NC_000001.10:g.150319081_150319095del , CM000663.1:g.150319081_150319095del	GRCh37
NC_000001.9:g.148585705_148585719del	NCBI36
NG_008245.1:g.30154_30168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+114_1843+128del MANE Select	ENSP00000315379.6:n.1843+114_1843+128del
ENST00000324862.6:c.1843+114_1843+128del	ENSP00000315379.6:n.1843+114_1843+128del
ENST00000467329.5:n.2170+114_2170+128del
ENST00000476970.1:n.952+114_952+128del
NM_004698.2:c.1843+114_1843+128del	NP_004689.1:n.1843+114_1843+128del
XM_011510128.1:c.1853+104_1853+118del	XP_011508430.1:n.1853+104_1853+118del
XM_011510129.1:c.1438+114_1438+128del	XP_011508431.1:n.1438+114_1438+128del
XM_011510130.1:c.1411+114_1411+128del	XP_011508432.1:n.1411+114_1411+128del
XR_241103.1:n.1826+114_1826+128del
XR_921997.1:n.1836+104_1836+118del
XR_921998.1:n.1940+114_1940+128del
NM_001350529.1:c.1438+114_1438+128del	NP_001337458.1:n.1438+114_1438+128del
NM_004698.3:c.1843+114_1843+128del	NP_004689.1:n.1843+114_1843+128del
NR_146766.1:n.2074+114_2074+128del
NR_146767.1:n.2170+114_2170+128del
NR_146768.1:n.2026+104_2026+118del
NR_146769.1:n.2079+104_2079+118del
XM_011510130.3:c.1411+114_1411+128del	XP_011508432.1:n.1411+114_1411+128del
XM_017002790.1:c.1411+114_1411+128del	XP_016858279.1:n.1411+114_1411+128del
XR_001737536.2:n.1876+114_1876+128del
XR_001737537.2:n.1990+114_1990+128del
XR_001737540.2:n.2747+114_2747+128del
XR_001737541.2:n.1770+114_1770+128del
XR_002958009.1:n.2500+114_2500+128del
XR_002958010.1:n.3746+104_3746+118del
XR_002958012.1:n.1942+104_1942+118del
XR_241103.3:n.1818+114_1818+128del
XR_921997.3:n.1828+104_1828+118del
XR_921998.3:n.1932+114_1932+128del
NM_004698.4:c.1843+114_1843+128del MANE Select	NP_004689.1:n.1843+114_1843+128del