Canonical Allele Identifier: CA2647799567

Gene: PRPF3

Linked Data

• gnomAD v4: 1-150346605-TCAGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346606_150346610del , CM000663.2:g.150346606_150346610del	GRCh38
NC_000001.10:g.150319082_150319086del , CM000663.1:g.150319082_150319086del	GRCh37
NC_000001.9:g.148585706_148585710del	NCBI36
NG_008245.1:g.30155_30159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+115_1843+119del MANE Select	ENSP00000315379.6:n.1843+115_1843+119del
ENST00000324862.6:c.1843+115_1843+119del	ENSP00000315379.6:n.1843+115_1843+119del
ENST00000467329.5:n.2170+115_2170+119del
ENST00000476970.1:n.952+115_952+119del
NM_004698.2:c.1843+115_1843+119del	NP_004689.1:n.1843+115_1843+119del
XM_011510128.1:c.1853+105_1853+109del	XP_011508430.1:n.1853+105_1853+109del
XM_011510129.1:c.1438+115_1438+119del	XP_011508431.1:n.1438+115_1438+119del
XM_011510130.1:c.1411+115_1411+119del	XP_011508432.1:n.1411+115_1411+119del
XR_241103.1:n.1826+115_1826+119del
XR_921997.1:n.1836+105_1836+109del
XR_921998.1:n.1940+115_1940+119del
NM_001350529.1:c.1438+115_1438+119del	NP_001337458.1:n.1438+115_1438+119del
NM_004698.3:c.1843+115_1843+119del	NP_004689.1:n.1843+115_1843+119del
NR_146766.1:n.2074+115_2074+119del
NR_146767.1:n.2170+115_2170+119del
NR_146768.1:n.2026+105_2026+109del
NR_146769.1:n.2079+105_2079+109del
XM_011510130.3:c.1411+115_1411+119del	XP_011508432.1:n.1411+115_1411+119del
XM_017002790.1:c.1411+115_1411+119del	XP_016858279.1:n.1411+115_1411+119del
XR_001737536.2:n.1876+115_1876+119del
XR_001737537.2:n.1990+115_1990+119del
XR_001737540.2:n.2747+115_2747+119del
XR_001737541.2:n.1770+115_1770+119del
XR_002958009.1:n.2500+115_2500+119del
XR_002958010.1:n.3746+105_3746+109del
XR_002958012.1:n.1942+105_1942+109del
XR_241103.3:n.1818+115_1818+119del
XR_921997.3:n.1828+105_1828+109del
XR_921998.3:n.1932+115_1932+119del
NM_004698.4:c.1843+115_1843+119del MANE Select	NP_004689.1:n.1843+115_1843+119del