Canonical Allele Identifier: CA2647799574

Gene: PRPF3

Linked Data

• gnomAD v4: 1-150346611-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346615del , CM000663.2:g.150346615del	GRCh38
NC_000001.10:g.150319091del , CM000663.1:g.150319091del	GRCh37
NC_000001.9:g.148585715del	NCBI36
NG_008245.1:g.30164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+124del MANE Select	ENSP00000315379.6:n.1843+124del
ENST00000324862.6:c.1843+124del	ENSP00000315379.6:n.1843+124del
ENST00000467329.5:n.2170+124del
ENST00000476970.1:n.952+124del
NM_004698.2:c.1843+124del	NP_004689.1:n.1843+124del
XM_011510128.1:c.1853+114del	XP_011508430.1:n.1853+114del
XM_011510129.1:c.1438+124del	XP_011508431.1:n.1438+124del
XM_011510130.1:c.1411+124del	XP_011508432.1:n.1411+124del
XR_241103.1:n.1826+124del
XR_921997.1:n.1836+114del
XR_921998.1:n.1940+124del
NM_001350529.1:c.1438+124del	NP_001337458.1:n.1438+124del
NM_004698.3:c.1843+124del	NP_004689.1:n.1843+124del
NR_146766.1:n.2074+124del
NR_146767.1:n.2170+124del
NR_146768.1:n.2026+114del
NR_146769.1:n.2079+114del
XM_011510130.3:c.1411+124del	XP_011508432.1:n.1411+124del
XM_017002790.1:c.1411+124del	XP_016858279.1:n.1411+124del
XR_001737536.2:n.1876+124del
XR_001737537.2:n.1990+124del
XR_001737540.2:n.2747+124del
XR_001737541.2:n.1770+124del
XR_002958009.1:n.2500+124del
XR_002958010.1:n.3746+114del
XR_002958012.1:n.1942+114del
XR_241103.3:n.1818+124del
XR_921997.3:n.1828+114del
XR_921998.3:n.1932+124del
NM_004698.4:c.1843+124del MANE Select	NP_004689.1:n.1843+124del