Canonical Allele Identifier: CA2746071791

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346629_150346631del , CM000663.2:g.150346629_150346631del	GRCh38
NC_000001.10:g.150319105_150319107del , CM000663.1:g.150319105_150319107del	GRCh37
NC_000001.9:g.148585729_148585731del	NCBI36
NG_008245.1:g.30178_30180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+138_1843+140del MANE Select	ENSP00000315379.6:n.1843+138_1843+140del
ENST00000324862.6:c.1843+138_1843+140del	ENSP00000315379.6:n.1843+138_1843+140del
ENST00000467329.5:n.2170+138_2170+140del
ENST00000476970.1:n.952+138_952+140del
NM_004698.2:c.1843+138_1843+140del	NP_004689.1:n.1843+138_1843+140del
XM_011510128.1:c.1853+128_1853+130del	XP_011508430.1:n.1853+128_1853+130del
XM_011510129.1:c.1438+138_1438+140del	XP_011508431.1:n.1438+138_1438+140del
XM_011510130.1:c.1411+138_1411+140del	XP_011508432.1:n.1411+138_1411+140del
XR_241103.1:n.1826+138_1826+140del
XR_921997.1:n.1836+128_1836+130del
XR_921998.1:n.1940+138_1940+140del
NM_001350529.1:c.1438+138_1438+140del	NP_001337458.1:n.1438+138_1438+140del
NM_004698.3:c.1843+138_1843+140del	NP_004689.1:n.1843+138_1843+140del
NR_146766.1:n.2074+138_2074+140del
NR_146767.1:n.2170+138_2170+140del
NR_146768.1:n.2026+128_2026+130del
NR_146769.1:n.2079+128_2079+130del
XM_011510130.3:c.1411+138_1411+140del	XP_011508432.1:n.1411+138_1411+140del
XM_017002790.1:c.1411+138_1411+140del	XP_016858279.1:n.1411+138_1411+140del
XR_001737536.2:n.1876+138_1876+140del
XR_001737537.2:n.1990+138_1990+140del
XR_001737540.2:n.2747+138_2747+140del
XR_001737541.2:n.1770+138_1770+140del
XR_002958009.1:n.2500+138_2500+140del
XR_002958010.1:n.3746+128_3746+130del
XR_002958012.1:n.1942+128_1942+130del
XR_241103.3:n.1818+138_1818+140del
XR_921997.3:n.1828+128_1828+130del
XR_921998.3:n.1932+138_1932+140del
NM_004698.4:c.1843+138_1843+140del MANE Select	NP_004689.1:n.1843+138_1843+140del