Canonical Allele Identifier: CA2479117609

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346615_150346619delinsTAGAA , CM000663.2:g.150346615_150346619delinsTAGAA	GRCh38
NC_000001.10:g.150319091_150319095delinsTAGAA , CM000663.1:g.150319091_150319095delinsTAGAA	GRCh37
NC_000001.9:g.148585715_148585719delinsTAGAA	NCBI36
NG_008245.1:g.30164_30168delinsTAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+124_1843+128delinsTAGAA MANE Select	ENSP00000315379.6:n.1843+124_1843+128delinsTAGAA
ENST00000324862.6:c.1843+124_1843+128delinsTAGAA	ENSP00000315379.6:n.1843+124_1843+128delinsTAGAA
ENST00000467329.5:n.2170+124_2170+128delinsTAGAA
ENST00000476970.1:n.952+124_952+128delinsTAGAA
NM_004698.2:c.1843+124_1843+128delinsTAGAA	NP_004689.1:n.1843+124_1843+128delinsTAGAA
XM_011510128.1:c.1853+114_1853+118delinsTAGAA	XP_011508430.1:n.1853+114_1853+118delinsTAGAA
XM_011510129.1:c.1438+124_1438+128delinsTAGAA	XP_011508431.1:n.1438+124_1438+128delinsTAGAA
XM_011510130.1:c.1411+124_1411+128delinsTAGAA	XP_011508432.1:n.1411+124_1411+128delinsTAGAA
XR_241103.1:n.1826+124_1826+128delinsTAGAA
XR_921997.1:n.1836+114_1836+118delinsTAGAA
XR_921998.1:n.1940+124_1940+128delinsTAGAA
NM_001350529.1:c.1438+124_1438+128delinsTAGAA	NP_001337458.1:n.1438+124_1438+128delinsTAGAA
NM_004698.3:c.1843+124_1843+128delinsTAGAA	NP_004689.1:n.1843+124_1843+128delinsTAGAA
NR_146766.1:n.2074+124_2074+128delinsTAGAA
NR_146767.1:n.2170+124_2170+128delinsTAGAA
NR_146768.1:n.2026+114_2026+118delinsTAGAA
NR_146769.1:n.2079+114_2079+118delinsTAGAA
XM_011510130.3:c.1411+124_1411+128delinsTAGAA	XP_011508432.1:n.1411+124_1411+128delinsTAGAA
XM_017002790.1:c.1411+124_1411+128delinsTAGAA	XP_016858279.1:n.1411+124_1411+128delinsTAGAA
XR_001737536.2:n.1876+124_1876+128delinsTAGAA
XR_001737537.2:n.1990+124_1990+128delinsTAGAA
XR_001737540.2:n.2747+124_2747+128delinsTAGAA
XR_001737541.2:n.1770+124_1770+128delinsTAGAA
XR_002958009.1:n.2500+124_2500+128delinsTAGAA
XR_002958010.1:n.3746+114_3746+118delinsTAGAA
XR_002958012.1:n.1942+114_1942+118delinsTAGAA
XR_241103.3:n.1818+124_1818+128delinsTAGAA
XR_921997.3:n.1828+114_1828+118delinsTAGAA
XR_921998.3:n.1932+124_1932+128delinsTAGAA
NM_004698.4:c.1843+124_1843+128delinsTAGAA MANE Select	NP_004689.1:n.1843+124_1843+128delinsTAGAA