Canonical Allele Identifier: CA2746071754

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346555_150346556insAGA , CM000663.2:g.150346555_150346556insAGA	GRCh38
NC_000001.10:g.150319031_150319032insAGA , CM000663.1:g.150319031_150319032insAGA	GRCh37
NC_000001.9:g.148585655_148585656insAGA	NCBI36
NG_008245.1:g.30104_30105insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+64_1843+65insAGA MANE Select	ENSP00000315379.6:n.1843+64_1843+65insAGA
ENST00000324862.6:c.1843+64_1843+65insAGA	ENSP00000315379.6:n.1843+64_1843+65insAGA
ENST00000467329.5:n.2170+64_2170+65insAGA
ENST00000476970.1:n.952+64_952+65insAGA
NM_004698.2:c.1843+64_1843+65insAGA	NP_004689.1:n.1843+64_1843+65insAGA
XM_011510128.1:c.1853+54_1853+55insAGA	XP_011508430.1:n.1853+54_1853+55insAGA
XM_011510129.1:c.1438+64_1438+65insAGA	XP_011508431.1:n.1438+64_1438+65insAGA
XM_011510130.1:c.1411+64_1411+65insAGA	XP_011508432.1:n.1411+64_1411+65insAGA
XR_241103.1:n.1826+64_1826+65insAGA
XR_921997.1:n.1836+54_1836+55insAGA
XR_921998.1:n.1940+64_1940+65insAGA
NM_001350529.1:c.1438+64_1438+65insAGA	NP_001337458.1:n.1438+64_1438+65insAGA
NM_004698.3:c.1843+64_1843+65insAGA	NP_004689.1:n.1843+64_1843+65insAGA
NR_146766.1:n.2074+64_2074+65insAGA
NR_146767.1:n.2170+64_2170+65insAGA
NR_146768.1:n.2026+54_2026+55insAGA
NR_146769.1:n.2079+54_2079+55insAGA
XM_011510130.3:c.1411+64_1411+65insAGA	XP_011508432.1:n.1411+64_1411+65insAGA
XM_017002790.1:c.1411+64_1411+65insAGA	XP_016858279.1:n.1411+64_1411+65insAGA
XR_001737536.2:n.1876+64_1876+65insAGA
XR_001737537.2:n.1990+64_1990+65insAGA
XR_001737540.2:n.2747+64_2747+65insAGA
XR_001737541.2:n.1770+64_1770+65insAGA
XR_002958009.1:n.2500+64_2500+65insAGA
XR_002958010.1:n.3746+54_3746+55insAGA
XR_002958012.1:n.1942+54_1942+55insAGA
XR_241103.3:n.1818+64_1818+65insAGA
XR_921997.3:n.1828+54_1828+55insAGA
XR_921998.3:n.1932+64_1932+65insAGA
NM_004698.4:c.1843+64_1843+65insAGA MANE Select	NP_004689.1:n.1843+64_1843+65insAGA