Canonical Allele Identifier: CA2746071780

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346609_150346610insTC , CM000663.2:g.150346609_150346610insTC	GRCh38
NC_000001.10:g.150319085_150319086insTC , CM000663.1:g.150319085_150319086insTC	GRCh37
NC_000001.9:g.148585709_148585710insTC	NCBI36
NG_008245.1:g.30158_30159insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+118_1843+119insTC MANE Select	ENSP00000315379.6:n.1843+118_1843+119insTC
ENST00000324862.6:c.1843+118_1843+119insTC	ENSP00000315379.6:n.1843+118_1843+119insTC
ENST00000467329.5:n.2170+118_2170+119insTC
ENST00000476970.1:n.952+118_952+119insTC
NM_004698.2:c.1843+118_1843+119insTC	NP_004689.1:n.1843+118_1843+119insTC
XM_011510128.1:c.1853+108_1853+109insTC	XP_011508430.1:n.1853+108_1853+109insTC
XM_011510129.1:c.1438+118_1438+119insTC	XP_011508431.1:n.1438+118_1438+119insTC
XM_011510130.1:c.1411+118_1411+119insTC	XP_011508432.1:n.1411+118_1411+119insTC
XR_241103.1:n.1826+118_1826+119insTC
XR_921997.1:n.1836+108_1836+109insTC
XR_921998.1:n.1940+118_1940+119insTC
NM_001350529.1:c.1438+118_1438+119insTC	NP_001337458.1:n.1438+118_1438+119insTC
NM_004698.3:c.1843+118_1843+119insTC	NP_004689.1:n.1843+118_1843+119insTC
NR_146766.1:n.2074+118_2074+119insTC
NR_146767.1:n.2170+118_2170+119insTC
NR_146768.1:n.2026+108_2026+109insTC
NR_146769.1:n.2079+108_2079+109insTC
XM_011510130.3:c.1411+118_1411+119insTC	XP_011508432.1:n.1411+118_1411+119insTC
XM_017002790.1:c.1411+118_1411+119insTC	XP_016858279.1:n.1411+118_1411+119insTC
XR_001737536.2:n.1876+118_1876+119insTC
XR_001737537.2:n.1990+118_1990+119insTC
XR_001737540.2:n.2747+118_2747+119insTC
XR_001737541.2:n.1770+118_1770+119insTC
XR_002958009.1:n.2500+118_2500+119insTC
XR_002958010.1:n.3746+108_3746+109insTC
XR_002958012.1:n.1942+108_1942+109insTC
XR_241103.3:n.1818+118_1818+119insTC
XR_921997.3:n.1828+108_1828+109insTC
XR_921998.3:n.1932+118_1932+119insTC
NM_004698.4:c.1843+118_1843+119insTC MANE Select	NP_004689.1:n.1843+118_1843+119insTC