Canonical Allele Identifier: CA2479117637

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346696_150346697delinsTA , CM000663.2:g.150346696_150346697delinsTA	GRCh38
NC_000001.10:g.150319172_150319173delinsTA , CM000663.1:g.150319172_150319173delinsTA	GRCh37
NC_000001.9:g.148585796_148585797delinsTA	NCBI36
NG_008245.1:g.30245_30246delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+205_1843+206delinsTA MANE Select	ENSP00000315379.6:n.1843+205_1843+206delinsTA
ENST00000324862.6:c.1843+205_1843+206delinsTA	ENSP00000315379.6:n.1843+205_1843+206delinsTA
ENST00000467329.5:n.2170+205_2170+206delinsTA
ENST00000476970.1:n.952+205_952+206delinsTA
NM_004698.2:c.1843+205_1843+206delinsTA	NP_004689.1:n.1843+205_1843+206delinsTA
XM_011510128.1:c.1853+195_1853+196delinsTA	XP_011508430.1:n.1853+195_1853+196delinsTA
XM_011510129.1:c.1438+205_1438+206delinsTA	XP_011508431.1:n.1438+205_1438+206delinsTA
XM_011510130.1:c.1411+205_1411+206delinsTA	XP_011508432.1:n.1411+205_1411+206delinsTA
XR_241103.1:n.1826+205_1826+206delinsTA
XR_921997.1:n.1836+195_1836+196delinsTA
XR_921998.1:n.1940+205_1940+206delinsTA
NM_001350529.1:c.1438+205_1438+206delinsTA	NP_001337458.1:n.1438+205_1438+206delinsTA
NM_004698.3:c.1843+205_1843+206delinsTA	NP_004689.1:n.1843+205_1843+206delinsTA
NR_146766.1:n.2074+205_2074+206delinsTA
NR_146767.1:n.2170+205_2170+206delinsTA
NR_146768.1:n.2026+195_2026+196delinsTA
NR_146769.1:n.2079+195_2079+196delinsTA
XM_011510130.3:c.1411+205_1411+206delinsTA	XP_011508432.1:n.1411+205_1411+206delinsTA
XM_017002790.1:c.1411+205_1411+206delinsTA	XP_016858279.1:n.1411+205_1411+206delinsTA
XR_001737536.2:n.1876+205_1876+206delinsTA
XR_001737537.2:n.1990+205_1990+206delinsTA
XR_001737540.2:n.2747+205_2747+206delinsTA
XR_001737541.2:n.1770+205_1770+206delinsTA
XR_002958009.1:n.2500+205_2500+206delinsTA
XR_002958010.1:n.3746+195_3746+196delinsTA
XR_002958012.1:n.1942+195_1942+196delinsTA
XR_241103.3:n.1818+205_1818+206delinsTA
XR_921997.3:n.1828+195_1828+196delinsTA
XR_921998.3:n.1932+205_1932+206delinsTA
NM_004698.4:c.1843+205_1843+206delinsTA MANE Select	NP_004689.1:n.1843+205_1843+206delinsTA