Canonical Allele Identifier: CA2746071808

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346687_150346688del , CM000663.2:g.150346687_150346688del	GRCh38
NC_000001.10:g.150319163_150319164del , CM000663.1:g.150319163_150319164del	GRCh37
NC_000001.9:g.148585787_148585788del	NCBI36
NG_008245.1:g.30236_30237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+196_1843+197del MANE Select	ENSP00000315379.6:n.1843+196_1843+197del
ENST00000324862.6:c.1843+196_1843+197del	ENSP00000315379.6:n.1843+196_1843+197del
ENST00000467329.5:n.2170+196_2170+197del
ENST00000476970.1:n.952+196_952+197del
NM_004698.2:c.1843+196_1843+197del	NP_004689.1:n.1843+196_1843+197del
XM_011510128.1:c.1853+186_1853+187del	XP_011508430.1:n.1853+186_1853+187del
XM_011510129.1:c.1438+196_1438+197del	XP_011508431.1:n.1438+196_1438+197del
XM_011510130.1:c.1411+196_1411+197del	XP_011508432.1:n.1411+196_1411+197del
XR_241103.1:n.1826+196_1826+197del
XR_921997.1:n.1836+186_1836+187del
XR_921998.1:n.1940+196_1940+197del
NM_001350529.1:c.1438+196_1438+197del	NP_001337458.1:n.1438+196_1438+197del
NM_004698.3:c.1843+196_1843+197del	NP_004689.1:n.1843+196_1843+197del
NR_146766.1:n.2074+196_2074+197del
NR_146767.1:n.2170+196_2170+197del
NR_146768.1:n.2026+186_2026+187del
NR_146769.1:n.2079+186_2079+187del
XM_011510130.3:c.1411+196_1411+197del	XP_011508432.1:n.1411+196_1411+197del
XM_017002790.1:c.1411+196_1411+197del	XP_016858279.1:n.1411+196_1411+197del
XR_001737536.2:n.1876+196_1876+197del
XR_001737537.2:n.1990+196_1990+197del
XR_001737540.2:n.2747+196_2747+197del
XR_001737541.2:n.1770+196_1770+197del
XR_002958009.1:n.2500+196_2500+197del
XR_002958010.1:n.3746+186_3746+187del
XR_002958012.1:n.1942+186_1942+187del
XR_241103.3:n.1818+196_1818+197del
XR_921997.3:n.1828+186_1828+187del
XR_921998.3:n.1932+196_1932+197del
NM_004698.4:c.1843+196_1843+197del MANE Select	NP_004689.1:n.1843+196_1843+197del