Canonical Allele Identifier: CA2647799584

Gene: PRPF3

Linked Data

• gnomAD v4: 1-150346621-GACCCGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346623_150346630del , CM000663.2:g.150346623_150346630del	GRCh38
NC_000001.10:g.150319099_150319106del , CM000663.1:g.150319099_150319106del	GRCh37
NC_000001.9:g.148585723_148585730del	NCBI36
NG_008245.1:g.30172_30179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+132_1843+139del MANE Select	ENSP00000315379.6:n.1843+132_1843+139del
ENST00000324862.6:c.1843+132_1843+139del	ENSP00000315379.6:n.1843+132_1843+139del
ENST00000467329.5:n.2170+132_2170+139del
ENST00000476970.1:n.952+132_952+139del
NM_004698.2:c.1843+132_1843+139del	NP_004689.1:n.1843+132_1843+139del
XM_011510128.1:c.1853+122_1853+129del	XP_011508430.1:n.1853+122_1853+129del
XM_011510129.1:c.1438+132_1438+139del	XP_011508431.1:n.1438+132_1438+139del
XM_011510130.1:c.1411+132_1411+139del	XP_011508432.1:n.1411+132_1411+139del
XR_241103.1:n.1826+132_1826+139del
XR_921997.1:n.1836+122_1836+129del
XR_921998.1:n.1940+132_1940+139del
NM_001350529.1:c.1438+132_1438+139del	NP_001337458.1:n.1438+132_1438+139del
NM_004698.3:c.1843+132_1843+139del	NP_004689.1:n.1843+132_1843+139del
NR_146766.1:n.2074+132_2074+139del
NR_146767.1:n.2170+132_2170+139del
NR_146768.1:n.2026+122_2026+129del
NR_146769.1:n.2079+122_2079+129del
XM_011510130.3:c.1411+132_1411+139del	XP_011508432.1:n.1411+132_1411+139del
XM_017002790.1:c.1411+132_1411+139del	XP_016858279.1:n.1411+132_1411+139del
XR_001737536.2:n.1876+132_1876+139del
XR_001737537.2:n.1990+132_1990+139del
XR_001737540.2:n.2747+132_2747+139del
XR_001737541.2:n.1770+132_1770+139del
XR_002958009.1:n.2500+132_2500+139del
XR_002958010.1:n.3746+122_3746+129del
XR_002958012.1:n.1942+122_1942+129del
XR_241103.3:n.1818+132_1818+139del
XR_921997.3:n.1828+122_1828+129del
XR_921998.3:n.1932+132_1932+139del
NM_004698.4:c.1843+132_1843+139del MANE Select	NP_004689.1:n.1843+132_1843+139del