Canonical Allele Identifier: CA2479117577
Gene: PRPF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150346540_150346541delinsGA , CM000663.2:g.150346540_150346541delinsGA GRCh38
NC_000001.10:g.150319016_150319017delinsGA , CM000663.1:g.150319016_150319017delinsGA GRCh37
NC_000001.9:g.148585640_148585641delinsGA NCBI36
NG_008245.1:g.30089_30090delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000324862.7:c.1843+49_1843+50delinsGA MANE Select ENSP00000315379.6:n.1843+49_1843+50delinsGA
ENST00000324862.6:c.1843+49_1843+50delinsGA ENSP00000315379.6:n.1843+49_1843+50delinsGA
ENST00000467329.5:n.2170+49_2170+50delinsGA
ENST00000476970.1:n.952+49_952+50delinsGA
NM_004698.2:c.1843+49_1843+50delinsGA NP_004689.1:n.1843+49_1843+50delinsGA
XM_011510128.1:c.1853+39_1853+40delinsGA XP_011508430.1:n.1853+39_1853+40delinsGA
XM_011510129.1:c.1438+49_1438+50delinsGA XP_011508431.1:n.1438+49_1438+50delinsGA
XM_011510130.1:c.1411+49_1411+50delinsGA XP_011508432.1:n.1411+49_1411+50delinsGA
XR_241103.1:n.1826+49_1826+50delinsGA
XR_921997.1:n.1836+39_1836+40delinsGA
XR_921998.1:n.1940+49_1940+50delinsGA
NM_001350529.1:c.1438+49_1438+50delinsGA NP_001337458.1:n.1438+49_1438+50delinsGA
NM_004698.3:c.1843+49_1843+50delinsGA NP_004689.1:n.1843+49_1843+50delinsGA
NR_146766.1:n.2074+49_2074+50delinsGA
NR_146767.1:n.2170+49_2170+50delinsGA
NR_146768.1:n.2026+39_2026+40delinsGA
NR_146769.1:n.2079+39_2079+40delinsGA
XM_011510130.3:c.1411+49_1411+50delinsGA XP_011508432.1:n.1411+49_1411+50delinsGA
XM_017002790.1:c.1411+49_1411+50delinsGA XP_016858279.1:n.1411+49_1411+50delinsGA
XR_001737536.2:n.1876+49_1876+50delinsGA
XR_001737537.2:n.1990+49_1990+50delinsGA
XR_001737540.2:n.2747+49_2747+50delinsGA
XR_001737541.2:n.1770+49_1770+50delinsGA
XR_002958009.1:n.2500+49_2500+50delinsGA
XR_002958010.1:n.3746+39_3746+40delinsGA
XR_002958012.1:n.1942+39_1942+40delinsGA
XR_241103.3:n.1818+49_1818+50delinsGA
XR_921997.3:n.1828+39_1828+40delinsGA
XR_921998.3:n.1932+49_1932+50delinsGA
NM_004698.4:c.1843+49_1843+50delinsGA MANE Select NP_004689.1:n.1843+49_1843+50delinsGA