Canonical Allele Identifier: CA2746071796

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346633_150346645del , CM000663.2:g.150346633_150346645del	GRCh38
NC_000001.10:g.150319109_150319121del , CM000663.1:g.150319109_150319121del	GRCh37
NC_000001.9:g.148585733_148585745del	NCBI36
NG_008245.1:g.30182_30194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+142_1843+154del MANE Select	ENSP00000315379.6:n.1843+142_1843+154del
ENST00000324862.6:c.1843+142_1843+154del	ENSP00000315379.6:n.1843+142_1843+154del
ENST00000467329.5:n.2170+142_2170+154del
ENST00000476970.1:n.952+142_952+154del
NM_004698.2:c.1843+142_1843+154del	NP_004689.1:n.1843+142_1843+154del
XM_011510128.1:c.1853+132_1853+144del	XP_011508430.1:n.1853+132_1853+144del
XM_011510129.1:c.1438+142_1438+154del	XP_011508431.1:n.1438+142_1438+154del
XM_011510130.1:c.1411+142_1411+154del	XP_011508432.1:n.1411+142_1411+154del
XR_241103.1:n.1826+142_1826+154del
XR_921997.1:n.1836+132_1836+144del
XR_921998.1:n.1940+142_1940+154del
NM_001350529.1:c.1438+142_1438+154del	NP_001337458.1:n.1438+142_1438+154del
NM_004698.3:c.1843+142_1843+154del	NP_004689.1:n.1843+142_1843+154del
NR_146766.1:n.2074+142_2074+154del
NR_146767.1:n.2170+142_2170+154del
NR_146768.1:n.2026+132_2026+144del
NR_146769.1:n.2079+132_2079+144del
XM_011510130.3:c.1411+142_1411+154del	XP_011508432.1:n.1411+142_1411+154del
XM_017002790.1:c.1411+142_1411+154del	XP_016858279.1:n.1411+142_1411+154del
XR_001737536.2:n.1876+142_1876+154del
XR_001737537.2:n.1990+142_1990+154del
XR_001737540.2:n.2747+142_2747+154del
XR_001737541.2:n.1770+142_1770+154del
XR_002958009.1:n.2500+142_2500+154del
XR_002958010.1:n.3746+132_3746+144del
XR_002958012.1:n.1942+132_1942+144del
XR_241103.3:n.1818+142_1818+154del
XR_921997.3:n.1828+132_1828+144del
XR_921998.3:n.1932+142_1932+154del
NM_004698.4:c.1843+142_1843+154del MANE Select	NP_004689.1:n.1843+142_1843+154del