Canonical Allele Identifier: CA2746071790

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346628_150346629insAC , CM000663.2:g.150346628_150346629insAC	GRCh38
NC_000001.10:g.150319104_150319105insAC , CM000663.1:g.150319104_150319105insAC	GRCh37
NC_000001.9:g.148585728_148585729insAC	NCBI36
NG_008245.1:g.30177_30178insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+137_1843+138insAC MANE Select	ENSP00000315379.6:n.1843+137_1843+138insAC
ENST00000324862.6:c.1843+137_1843+138insAC	ENSP00000315379.6:n.1843+137_1843+138insAC
ENST00000467329.5:n.2170+137_2170+138insAC
ENST00000476970.1:n.952+137_952+138insAC
NM_004698.2:c.1843+137_1843+138insAC	NP_004689.1:n.1843+137_1843+138insAC
XM_011510128.1:c.1853+127_1853+128insAC	XP_011508430.1:n.1853+127_1853+128insAC
XM_011510129.1:c.1438+137_1438+138insAC	XP_011508431.1:n.1438+137_1438+138insAC
XM_011510130.1:c.1411+137_1411+138insAC	XP_011508432.1:n.1411+137_1411+138insAC
XR_241103.1:n.1826+137_1826+138insAC
XR_921997.1:n.1836+127_1836+128insAC
XR_921998.1:n.1940+137_1940+138insAC
NM_001350529.1:c.1438+137_1438+138insAC	NP_001337458.1:n.1438+137_1438+138insAC
NM_004698.3:c.1843+137_1843+138insAC	NP_004689.1:n.1843+137_1843+138insAC
NR_146766.1:n.2074+137_2074+138insAC
NR_146767.1:n.2170+137_2170+138insAC
NR_146768.1:n.2026+127_2026+128insAC
NR_146769.1:n.2079+127_2079+128insAC
XM_011510130.3:c.1411+137_1411+138insAC	XP_011508432.1:n.1411+137_1411+138insAC
XM_017002790.1:c.1411+137_1411+138insAC	XP_016858279.1:n.1411+137_1411+138insAC
XR_001737536.2:n.1876+137_1876+138insAC
XR_001737537.2:n.1990+137_1990+138insAC
XR_001737540.2:n.2747+137_2747+138insAC
XR_001737541.2:n.1770+137_1770+138insAC
XR_002958009.1:n.2500+137_2500+138insAC
XR_002958010.1:n.3746+127_3746+128insAC
XR_002958012.1:n.1942+127_1942+128insAC
XR_241103.3:n.1818+137_1818+138insAC
XR_921997.3:n.1828+127_1828+128insAC
XR_921998.3:n.1932+137_1932+138insAC
NM_004698.4:c.1843+137_1843+138insAC MANE Select	NP_004689.1:n.1843+137_1843+138insAC