Canonical Allele Identifier: CA2479117619

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346640_150346652delinsCCTCCTAGACATT , CM000663.2:g.150346640_150346652delinsCCTCCTAGACATT	GRCh38
NC_000001.10:g.150319116_150319128delinsCCTCCTAGACATT , CM000663.1:g.150319116_150319128delinsCCTCCTAGACATT	GRCh37
NC_000001.9:g.148585740_148585752delinsCCTCCTAGACATT	NCBI36
NG_008245.1:g.30189_30201delinsCCTCCTAGACATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+149_1843+161delinsCCTCCTAGACATT MANE Select	ENSP00000315379.6:n.1843+149_1843+161delinsCCTCCTAGACATT
ENST00000324862.6:c.1843+149_1843+161delinsCCTCCTAGACATT	ENSP00000315379.6:n.1843+149_1843+161delinsCCTCCTAGACATT
ENST00000467329.5:n.2170+149_2170+161delinsCCTCCTAGACATT
ENST00000476970.1:n.952+149_952+161delinsCCTCCTAGACATT
NM_004698.2:c.1843+149_1843+161delinsCCTCCTAGACATT	NP_004689.1:n.1843+149_1843+161delinsCCTCCTAGACATT
XM_011510128.1:c.1853+139_1853+151delinsCCTCCTAGACATT	XP_011508430.1:n.1853+139_1853+151delinsCCTCCTAGACATT
XM_011510129.1:c.1438+149_1438+161delinsCCTCCTAGACATT	XP_011508431.1:n.1438+149_1438+161delinsCCTCCTAGACATT
XM_011510130.1:c.1411+149_1411+161delinsCCTCCTAGACATT	XP_011508432.1:n.1411+149_1411+161delinsCCTCCTAGACATT
XR_241103.1:n.1826+149_1826+161delinsCCTCCTAGACATT
XR_921997.1:n.1836+139_1836+151delinsCCTCCTAGACATT
XR_921998.1:n.1940+149_1940+161delinsCCTCCTAGACATT
NM_001350529.1:c.1438+149_1438+161delinsCCTCCTAGACATT	NP_001337458.1:n.1438+149_1438+161delinsCCTCCTAGACATT
NM_004698.3:c.1843+149_1843+161delinsCCTCCTAGACATT	NP_004689.1:n.1843+149_1843+161delinsCCTCCTAGACATT
NR_146766.1:n.2074+149_2074+161delinsCCTCCTAGACATT
NR_146767.1:n.2170+149_2170+161delinsCCTCCTAGACATT
NR_146768.1:n.2026+139_2026+151delinsCCTCCTAGACATT
NR_146769.1:n.2079+139_2079+151delinsCCTCCTAGACATT
XM_011510130.3:c.1411+149_1411+161delinsCCTCCTAGACATT	XP_011508432.1:n.1411+149_1411+161delinsCCTCCTAGACATT
XM_017002790.1:c.1411+149_1411+161delinsCCTCCTAGACATT	XP_016858279.1:n.1411+149_1411+161delinsCCTCCTAGACATT
XR_001737536.2:n.1876+149_1876+161delinsCCTCCTAGACATT
XR_001737537.2:n.1990+149_1990+161delinsCCTCCTAGACATT
XR_001737540.2:n.2747+149_2747+161delinsCCTCCTAGACATT
XR_001737541.2:n.1770+149_1770+161delinsCCTCCTAGACATT
XR_002958009.1:n.2500+149_2500+161delinsCCTCCTAGACATT
XR_002958010.1:n.3746+139_3746+151delinsCCTCCTAGACATT
XR_002958012.1:n.1942+139_1942+151delinsCCTCCTAGACATT
XR_241103.3:n.1818+149_1818+161delinsCCTCCTAGACATT
XR_921997.3:n.1828+139_1828+151delinsCCTCCTAGACATT
XR_921998.3:n.1932+149_1932+161delinsCCTCCTAGACATT
NM_004698.4:c.1843+149_1843+161delinsCCTCCTAGACATT MANE Select	NP_004689.1:n.1843+149_1843+161delinsCCTCCTAGACATT