Canonical Allele Identifier: CA2746071748

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346518_150346519insAC , CM000663.2:g.150346518_150346519insAC	GRCh38
NC_000001.10:g.150318994_150318995insAC , CM000663.1:g.150318994_150318995insAC	GRCh37
NC_000001.9:g.148585618_148585619insAC	NCBI36
NG_008245.1:g.30067_30068insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+27_1843+28insAC MANE Select	ENSP00000315379.6:n.1843+27_1843+28insAC
ENST00000324862.6:c.1843+27_1843+28insAC	ENSP00000315379.6:n.1843+27_1843+28insAC
ENST00000467329.5:n.2170+27_2170+28insAC
ENST00000476970.1:n.952+27_952+28insAC
NM_004698.2:c.1843+27_1843+28insAC	NP_004689.1:n.1843+27_1843+28insAC
XM_011510128.1:c.1853+17_1853+18insAC	XP_011508430.1:n.1853+17_1853+18insAC
XM_011510129.1:c.1438+27_1438+28insAC	XP_011508431.1:n.1438+27_1438+28insAC
XM_011510130.1:c.1411+27_1411+28insAC	XP_011508432.1:n.1411+27_1411+28insAC
XR_241103.1:n.1826+27_1826+28insAC
XR_921997.1:n.1836+17_1836+18insAC
XR_921998.1:n.1940+27_1940+28insAC
NM_001350529.1:c.1438+27_1438+28insAC	NP_001337458.1:n.1438+27_1438+28insAC
NM_004698.3:c.1843+27_1843+28insAC	NP_004689.1:n.1843+27_1843+28insAC
NR_146766.1:n.2074+27_2074+28insAC
NR_146767.1:n.2170+27_2170+28insAC
NR_146768.1:n.2026+17_2026+18insAC
NR_146769.1:n.2079+17_2079+18insAC
XM_011510130.3:c.1411+27_1411+28insAC	XP_011508432.1:n.1411+27_1411+28insAC
XM_017002790.1:c.1411+27_1411+28insAC	XP_016858279.1:n.1411+27_1411+28insAC
XR_001737536.2:n.1876+27_1876+28insAC
XR_001737537.2:n.1990+27_1990+28insAC
XR_001737540.2:n.2747+27_2747+28insAC
XR_001737541.2:n.1770+27_1770+28insAC
XR_002958009.1:n.2500+27_2500+28insAC
XR_002958010.1:n.3746+17_3746+18insAC
XR_002958012.1:n.1942+17_1942+18insAC
XR_241103.3:n.1818+27_1818+28insAC
XR_921997.3:n.1828+17_1828+18insAC
XR_921998.3:n.1932+27_1932+28insAC
NM_004698.4:c.1843+27_1843+28insAC MANE Select	NP_004689.1:n.1843+27_1843+28insAC