Canonical Allele Identifier: CA1075707

Gene: PRPF3

Linked Data

• dbSNP Id: rs782051342
• ExAC: 1:150318978 GT / G
• MyVariant Identifiers: chr1:g.150318979del (hg19) ; chr1:g.150346503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346504del , CM000663.2:g.150346504del	GRCh38
NC_000001.10:g.150318980del , CM000663.1:g.150318980del	GRCh37
NC_000001.9:g.148585604del	NCBI36
NG_008245.1:g.30053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+13del MANE Select	ENSP00000315379.6:n.1843+13del
ENST00000324862.6:c.1843+13del	ENSP00000315379.6:n.1843+13del
ENST00000467329.5:n.2170+13del
ENST00000476970.1:n.952+13del
NM_004698.2:c.1843+13del	NP_004689.1:n.1843+13del
XM_011510128.1:c.1853+3del	XP_011508430.1:n.1853+3del
XM_011510129.1:c.1438+13del	XP_011508431.1:n.1438+13del
XM_011510130.1:c.1411+13del	XP_011508432.1:n.1411+13del
XR_241103.1:n.1826+13del
XR_921997.1:n.1836+3del
XR_921998.1:n.1940+13del
NM_001350529.1:c.1438+13del	NP_001337458.1:n.1438+13del
NM_004698.3:c.1843+13del	NP_004689.1:n.1843+13del
NR_146766.1:n.2074+13del
NR_146767.1:n.2170+13del
NR_146768.1:n.2026+3del
NR_146769.1:n.2079+3del
XM_011510130.3:c.1411+13del	XP_011508432.1:n.1411+13del
XM_017002790.1:c.1411+13del	XP_016858279.1:n.1411+13del
XR_001737536.2:n.1876+13del
XR_001737537.2:n.1990+13del
XR_001737540.2:n.2747+13del
XR_001737541.2:n.1770+13del
XR_002958009.1:n.2500+13del
XR_002958010.1:n.3746+3del
XR_002958012.1:n.1942+3del
XR_241103.3:n.1818+13del
XR_921997.3:n.1828+3del
XR_921998.3:n.1932+13del
NM_004698.4:c.1843+13del MANE Select	NP_004689.1:n.1843+13del