Canonical Allele Identifier: CA2479117648

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346724_150346725delinsTC , CM000663.2:g.150346724_150346725delinsTC	GRCh38
NC_000001.10:g.150319200_150319201delinsTC , CM000663.1:g.150319200_150319201delinsTC	GRCh37
NC_000001.9:g.148585824_148585825delinsTC	NCBI36
NG_008245.1:g.30273_30274delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+233_1843+234delinsTC MANE Select	ENSP00000315379.6:n.1843+233_1843+234delinsTC
ENST00000324862.6:c.1843+233_1843+234delinsTC	ENSP00000315379.6:n.1843+233_1843+234delinsTC
ENST00000467329.5:n.2170+233_2170+234delinsTC
ENST00000476970.1:n.952+233_952+234delinsTC
NM_004698.2:c.1843+233_1843+234delinsTC	NP_004689.1:n.1843+233_1843+234delinsTC
XM_011510128.1:c.1853+223_1853+224delinsTC	XP_011508430.1:n.1853+223_1853+224delinsTC
XM_011510129.1:c.1438+233_1438+234delinsTC	XP_011508431.1:n.1438+233_1438+234delinsTC
XM_011510130.1:c.1411+233_1411+234delinsTC	XP_011508432.1:n.1411+233_1411+234delinsTC
XR_241103.1:n.1826+233_1826+234delinsTC
XR_921997.1:n.1836+223_1836+224delinsTC
XR_921998.1:n.1940+233_1940+234delinsTC
NM_001350529.1:c.1438+233_1438+234delinsTC	NP_001337458.1:n.1438+233_1438+234delinsTC
NM_004698.3:c.1843+233_1843+234delinsTC	NP_004689.1:n.1843+233_1843+234delinsTC
NR_146766.1:n.2074+233_2074+234delinsTC
NR_146767.1:n.2170+233_2170+234delinsTC
NR_146768.1:n.2026+223_2026+224delinsTC
NR_146769.1:n.2079+223_2079+224delinsTC
XM_011510130.3:c.1411+233_1411+234delinsTC	XP_011508432.1:n.1411+233_1411+234delinsTC
XM_017002790.1:c.1411+233_1411+234delinsTC	XP_016858279.1:n.1411+233_1411+234delinsTC
XR_001737536.2:n.1876+233_1876+234delinsTC
XR_001737537.2:n.1990+233_1990+234delinsTC
XR_001737540.2:n.2747+233_2747+234delinsTC
XR_001737541.2:n.1770+233_1770+234delinsTC
XR_002958009.1:n.2500+233_2500+234delinsTC
XR_002958010.1:n.3746+223_3746+224delinsTC
XR_002958012.1:n.1942+223_1942+224delinsTC
XR_241103.3:n.1818+233_1818+234delinsTC
XR_921997.3:n.1828+223_1828+224delinsTC
XR_921998.3:n.1932+233_1932+234delinsTC
NM_004698.4:c.1843+233_1843+234delinsTC MANE Select	NP_004689.1:n.1843+233_1843+234delinsTC