Canonical Allele Identifier: CA2746071792

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346630_150346631insACAG , CM000663.2:g.150346630_150346631insACAG	GRCh38
NC_000001.10:g.150319106_150319107insACAG , CM000663.1:g.150319106_150319107insACAG	GRCh37
NC_000001.9:g.148585730_148585731insACAG	NCBI36
NG_008245.1:g.30179_30180insACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+139_1843+140insACAG MANE Select	ENSP00000315379.6:n.1843+139_1843+140insACAG
ENST00000324862.6:c.1843+139_1843+140insACAG	ENSP00000315379.6:n.1843+139_1843+140insACAG
ENST00000467329.5:n.2170+139_2170+140insACAG
ENST00000476970.1:n.952+139_952+140insACAG
NM_004698.2:c.1843+139_1843+140insACAG	NP_004689.1:n.1843+139_1843+140insACAG
XM_011510128.1:c.1853+129_1853+130insACAG	XP_011508430.1:n.1853+129_1853+130insACAG
XM_011510129.1:c.1438+139_1438+140insACAG	XP_011508431.1:n.1438+139_1438+140insACAG
XM_011510130.1:c.1411+139_1411+140insACAG	XP_011508432.1:n.1411+139_1411+140insACAG
XR_241103.1:n.1826+139_1826+140insACAG
XR_921997.1:n.1836+129_1836+130insACAG
XR_921998.1:n.1940+139_1940+140insACAG
NM_001350529.1:c.1438+139_1438+140insACAG	NP_001337458.1:n.1438+139_1438+140insACAG
NM_004698.3:c.1843+139_1843+140insACAG	NP_004689.1:n.1843+139_1843+140insACAG
NR_146766.1:n.2074+139_2074+140insACAG
NR_146767.1:n.2170+139_2170+140insACAG
NR_146768.1:n.2026+129_2026+130insACAG
NR_146769.1:n.2079+129_2079+130insACAG
XM_011510130.3:c.1411+139_1411+140insACAG	XP_011508432.1:n.1411+139_1411+140insACAG
XM_017002790.1:c.1411+139_1411+140insACAG	XP_016858279.1:n.1411+139_1411+140insACAG
XR_001737536.2:n.1876+139_1876+140insACAG
XR_001737537.2:n.1990+139_1990+140insACAG
XR_001737540.2:n.2747+139_2747+140insACAG
XR_001737541.2:n.1770+139_1770+140insACAG
XR_002958009.1:n.2500+139_2500+140insACAG
XR_002958010.1:n.3746+129_3746+130insACAG
XR_002958012.1:n.1942+129_1942+130insACAG
XR_241103.3:n.1818+139_1818+140insACAG
XR_921997.3:n.1828+129_1828+130insACAG
XR_921998.3:n.1932+139_1932+140insACAG
NM_004698.4:c.1843+139_1843+140insACAG MANE Select	NP_004689.1:n.1843+139_1843+140insACAG