Canonical Allele Identifier: CA2479117601

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346594_150346598delinsCTAGA , CM000663.2:g.150346594_150346598delinsCTAGA	GRCh38
NC_000001.10:g.150319070_150319074delinsCTAGA , CM000663.1:g.150319070_150319074delinsCTAGA	GRCh37
NC_000001.9:g.148585694_148585698delinsCTAGA	NCBI36
NG_008245.1:g.30143_30147delinsCTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+103_1843+107delinsCTAGA MANE Select	ENSP00000315379.6:n.1843+103_1843+107delinsCTAGA
ENST00000324862.6:c.1843+103_1843+107delinsCTAGA	ENSP00000315379.6:n.1843+103_1843+107delinsCTAGA
ENST00000467329.5:n.2170+103_2170+107delinsCTAGA
ENST00000476970.1:n.952+103_952+107delinsCTAGA
NM_004698.2:c.1843+103_1843+107delinsCTAGA	NP_004689.1:n.1843+103_1843+107delinsCTAGA
XM_011510128.1:c.1853+93_1853+97delinsCTAGA	XP_011508430.1:n.1853+93_1853+97delinsCTAGA
XM_011510129.1:c.1438+103_1438+107delinsCTAGA	XP_011508431.1:n.1438+103_1438+107delinsCTAGA
XM_011510130.1:c.1411+103_1411+107delinsCTAGA	XP_011508432.1:n.1411+103_1411+107delinsCTAGA
XR_241103.1:n.1826+103_1826+107delinsCTAGA
XR_921997.1:n.1836+93_1836+97delinsCTAGA
XR_921998.1:n.1940+103_1940+107delinsCTAGA
NM_001350529.1:c.1438+103_1438+107delinsCTAGA	NP_001337458.1:n.1438+103_1438+107delinsCTAGA
NM_004698.3:c.1843+103_1843+107delinsCTAGA	NP_004689.1:n.1843+103_1843+107delinsCTAGA
NR_146766.1:n.2074+103_2074+107delinsCTAGA
NR_146767.1:n.2170+103_2170+107delinsCTAGA
NR_146768.1:n.2026+93_2026+97delinsCTAGA
NR_146769.1:n.2079+93_2079+97delinsCTAGA
XM_011510130.3:c.1411+103_1411+107delinsCTAGA	XP_011508432.1:n.1411+103_1411+107delinsCTAGA
XM_017002790.1:c.1411+103_1411+107delinsCTAGA	XP_016858279.1:n.1411+103_1411+107delinsCTAGA
XR_001737536.2:n.1876+103_1876+107delinsCTAGA
XR_001737537.2:n.1990+103_1990+107delinsCTAGA
XR_001737540.2:n.2747+103_2747+107delinsCTAGA
XR_001737541.2:n.1770+103_1770+107delinsCTAGA
XR_002958009.1:n.2500+103_2500+107delinsCTAGA
XR_002958010.1:n.3746+93_3746+97delinsCTAGA
XR_002958012.1:n.1942+93_1942+97delinsCTAGA
XR_241103.3:n.1818+103_1818+107delinsCTAGA
XR_921997.3:n.1828+93_1828+97delinsCTAGA
XR_921998.3:n.1932+103_1932+107delinsCTAGA
NM_004698.4:c.1843+103_1843+107delinsCTAGA MANE Select	NP_004689.1:n.1843+103_1843+107delinsCTAGA