Canonical Allele Identifier: CA2746071770

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346584_150346585del , CM000663.2:g.150346584_150346585del	GRCh38
NC_000001.10:g.150319060_150319061del , CM000663.1:g.150319060_150319061del	GRCh37
NC_000001.9:g.148585684_148585685del	NCBI36
NG_008245.1:g.30133_30134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+93_1843+94del MANE Select	ENSP00000315379.6:n.1843+93_1843+94del
ENST00000324862.6:c.1843+93_1843+94del	ENSP00000315379.6:n.1843+93_1843+94del
ENST00000467329.5:n.2170+93_2170+94del
ENST00000476970.1:n.952+93_952+94del
NM_004698.2:c.1843+93_1843+94del	NP_004689.1:n.1843+93_1843+94del
XM_011510128.1:c.1853+83_1853+84del	XP_011508430.1:n.1853+83_1853+84del
XM_011510129.1:c.1438+93_1438+94del	XP_011508431.1:n.1438+93_1438+94del
XM_011510130.1:c.1411+93_1411+94del	XP_011508432.1:n.1411+93_1411+94del
XR_241103.1:n.1826+93_1826+94del
XR_921997.1:n.1836+83_1836+84del
XR_921998.1:n.1940+93_1940+94del
NM_001350529.1:c.1438+93_1438+94del	NP_001337458.1:n.1438+93_1438+94del
NM_004698.3:c.1843+93_1843+94del	NP_004689.1:n.1843+93_1843+94del
NR_146766.1:n.2074+93_2074+94del
NR_146767.1:n.2170+93_2170+94del
NR_146768.1:n.2026+83_2026+84del
NR_146769.1:n.2079+83_2079+84del
XM_011510130.3:c.1411+93_1411+94del	XP_011508432.1:n.1411+93_1411+94del
XM_017002790.1:c.1411+93_1411+94del	XP_016858279.1:n.1411+93_1411+94del
XR_001737536.2:n.1876+93_1876+94del
XR_001737537.2:n.1990+93_1990+94del
XR_001737540.2:n.2747+93_2747+94del
XR_001737541.2:n.1770+93_1770+94del
XR_002958009.1:n.2500+93_2500+94del
XR_002958010.1:n.3746+83_3746+84del
XR_002958012.1:n.1942+83_1942+84del
XR_241103.3:n.1818+93_1818+94del
XR_921997.3:n.1828+83_1828+84del
XR_921998.3:n.1932+93_1932+94del
NM_004698.4:c.1843+93_1843+94del MANE Select	NP_004689.1:n.1843+93_1843+94del