Canonical Allele Identifier: CA2746071753

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346556_150346559del , CM000663.2:g.150346556_150346559del	GRCh38
NC_000001.10:g.150319032_150319035del , CM000663.1:g.150319032_150319035del	GRCh37
NC_000001.9:g.148585656_148585659del	NCBI36
NG_008245.1:g.30105_30108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+65_1843+68del MANE Select	ENSP00000315379.6:n.1843+65_1843+68del
ENST00000324862.6:c.1843+65_1843+68del	ENSP00000315379.6:n.1843+65_1843+68del
ENST00000467329.5:n.2170+65_2170+68del
ENST00000476970.1:n.952+65_952+68del
NM_004698.2:c.1843+65_1843+68del	NP_004689.1:n.1843+65_1843+68del
XM_011510128.1:c.1853+55_1853+58del	XP_011508430.1:n.1853+55_1853+58del
XM_011510129.1:c.1438+65_1438+68del	XP_011508431.1:n.1438+65_1438+68del
XM_011510130.1:c.1411+65_1411+68del	XP_011508432.1:n.1411+65_1411+68del
XR_241103.1:n.1826+65_1826+68del
XR_921997.1:n.1836+55_1836+58del
XR_921998.1:n.1940+65_1940+68del
NM_001350529.1:c.1438+65_1438+68del	NP_001337458.1:n.1438+65_1438+68del
NM_004698.3:c.1843+65_1843+68del	NP_004689.1:n.1843+65_1843+68del
NR_146766.1:n.2074+65_2074+68del
NR_146767.1:n.2170+65_2170+68del
NR_146768.1:n.2026+55_2026+58del
NR_146769.1:n.2079+55_2079+58del
XM_011510130.3:c.1411+65_1411+68del	XP_011508432.1:n.1411+65_1411+68del
XM_017002790.1:c.1411+65_1411+68del	XP_016858279.1:n.1411+65_1411+68del
XR_001737536.2:n.1876+65_1876+68del
XR_001737537.2:n.1990+65_1990+68del
XR_001737540.2:n.2747+65_2747+68del
XR_001737541.2:n.1770+65_1770+68del
XR_002958009.1:n.2500+65_2500+68del
XR_002958010.1:n.3746+55_3746+58del
XR_002958012.1:n.1942+55_1942+58del
XR_241103.3:n.1818+65_1818+68del
XR_921997.3:n.1828+55_1828+58del
XR_921998.3:n.1932+65_1932+68del
NM_004698.4:c.1843+65_1843+68del MANE Select	NP_004689.1:n.1843+65_1843+68del