Canonical Allele Identifier: CA2746071797

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346637_150346647del , CM000663.2:g.150346637_150346647del	GRCh38
NC_000001.10:g.150319113_150319123del , CM000663.1:g.150319113_150319123del	GRCh37
NC_000001.9:g.148585737_148585747del	NCBI36
NG_008245.1:g.30186_30196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+146_1843+156del MANE Select	ENSP00000315379.6:n.1843+146_1843+156del
ENST00000324862.6:c.1843+146_1843+156del	ENSP00000315379.6:n.1843+146_1843+156del
ENST00000467329.5:n.2170+146_2170+156del
ENST00000476970.1:n.952+146_952+156del
NM_004698.2:c.1843+146_1843+156del	NP_004689.1:n.1843+146_1843+156del
XM_011510128.1:c.1853+136_1853+146del	XP_011508430.1:n.1853+136_1853+146del
XM_011510129.1:c.1438+146_1438+156del	XP_011508431.1:n.1438+146_1438+156del
XM_011510130.1:c.1411+146_1411+156del	XP_011508432.1:n.1411+146_1411+156del
XR_241103.1:n.1826+146_1826+156del
XR_921997.1:n.1836+136_1836+146del
XR_921998.1:n.1940+146_1940+156del
NM_001350529.1:c.1438+146_1438+156del	NP_001337458.1:n.1438+146_1438+156del
NM_004698.3:c.1843+146_1843+156del	NP_004689.1:n.1843+146_1843+156del
NR_146766.1:n.2074+146_2074+156del
NR_146767.1:n.2170+146_2170+156del
NR_146768.1:n.2026+136_2026+146del
NR_146769.1:n.2079+136_2079+146del
XM_011510130.3:c.1411+146_1411+156del	XP_011508432.1:n.1411+146_1411+156del
XM_017002790.1:c.1411+146_1411+156del	XP_016858279.1:n.1411+146_1411+156del
XR_001737536.2:n.1876+146_1876+156del
XR_001737537.2:n.1990+146_1990+156del
XR_001737540.2:n.2747+146_2747+156del
XR_001737541.2:n.1770+146_1770+156del
XR_002958009.1:n.2500+146_2500+156del
XR_002958010.1:n.3746+136_3746+146del
XR_002958012.1:n.1942+136_1942+146del
XR_241103.3:n.1818+146_1818+156del
XR_921997.3:n.1828+136_1828+146del
XR_921998.3:n.1932+146_1932+156del
NM_004698.4:c.1843+146_1843+156del MANE Select	NP_004689.1:n.1843+146_1843+156del