Canonical Allele Identifier: CA2746071750

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346551_150346552insA , CM000663.2:g.150346551_150346552insA	GRCh38
NC_000001.10:g.150319027_150319028insA , CM000663.1:g.150319027_150319028insA	GRCh37
NC_000001.9:g.148585651_148585652insA	NCBI36
NG_008245.1:g.30100_30101insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+60_1843+61insA MANE Select	ENSP00000315379.6:n.1843+60_1843+61insA
ENST00000324862.6:c.1843+60_1843+61insA	ENSP00000315379.6:n.1843+60_1843+61insA
ENST00000467329.5:n.2170+60_2170+61insA
ENST00000476970.1:n.952+60_952+61insA
NM_004698.2:c.1843+60_1843+61insA	NP_004689.1:n.1843+60_1843+61insA
XM_011510128.1:c.1853+50_1853+51insA	XP_011508430.1:n.1853+50_1853+51insA
XM_011510129.1:c.1438+60_1438+61insA	XP_011508431.1:n.1438+60_1438+61insA
XM_011510130.1:c.1411+60_1411+61insA	XP_011508432.1:n.1411+60_1411+61insA
XR_241103.1:n.1826+60_1826+61insA
XR_921997.1:n.1836+50_1836+51insA
XR_921998.1:n.1940+60_1940+61insA
NM_001350529.1:c.1438+60_1438+61insA	NP_001337458.1:n.1438+60_1438+61insA
NM_004698.3:c.1843+60_1843+61insA	NP_004689.1:n.1843+60_1843+61insA
NR_146766.1:n.2074+60_2074+61insA
NR_146767.1:n.2170+60_2170+61insA
NR_146768.1:n.2026+50_2026+51insA
NR_146769.1:n.2079+50_2079+51insA
XM_011510130.3:c.1411+60_1411+61insA	XP_011508432.1:n.1411+60_1411+61insA
XM_017002790.1:c.1411+60_1411+61insA	XP_016858279.1:n.1411+60_1411+61insA
XR_001737536.2:n.1876+60_1876+61insA
XR_001737537.2:n.1990+60_1990+61insA
XR_001737540.2:n.2747+60_2747+61insA
XR_001737541.2:n.1770+60_1770+61insA
XR_002958009.1:n.2500+60_2500+61insA
XR_002958010.1:n.3746+50_3746+51insA
XR_002958012.1:n.1942+50_1942+51insA
XR_241103.3:n.1818+60_1818+61insA
XR_921997.3:n.1828+50_1828+51insA
XR_921998.3:n.1932+60_1932+61insA
NM_004698.4:c.1843+60_1843+61insA MANE Select	NP_004689.1:n.1843+60_1843+61insA