Canonical Allele Identifier: CA2746071774

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346594_150346595del , CM000663.2:g.150346594_150346595del	GRCh38
NC_000001.10:g.150319070_150319071del , CM000663.1:g.150319070_150319071del	GRCh37
NC_000001.9:g.148585694_148585695del	NCBI36
NG_008245.1:g.30143_30144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+103_1843+104del MANE Select	ENSP00000315379.6:n.1843+103_1843+104del
ENST00000324862.6:c.1843+103_1843+104del	ENSP00000315379.6:n.1843+103_1843+104del
ENST00000467329.5:n.2170+103_2170+104del
ENST00000476970.1:n.952+103_952+104del
NM_004698.2:c.1843+103_1843+104del	NP_004689.1:n.1843+103_1843+104del
XM_011510128.1:c.1853+93_1853+94del	XP_011508430.1:n.1853+93_1853+94del
XM_011510129.1:c.1438+103_1438+104del	XP_011508431.1:n.1438+103_1438+104del
XM_011510130.1:c.1411+103_1411+104del	XP_011508432.1:n.1411+103_1411+104del
XR_241103.1:n.1826+103_1826+104del
XR_921997.1:n.1836+93_1836+94del
XR_921998.1:n.1940+103_1940+104del
NM_001350529.1:c.1438+103_1438+104del	NP_001337458.1:n.1438+103_1438+104del
NM_004698.3:c.1843+103_1843+104del	NP_004689.1:n.1843+103_1843+104del
NR_146766.1:n.2074+103_2074+104del
NR_146767.1:n.2170+103_2170+104del
NR_146768.1:n.2026+93_2026+94del
NR_146769.1:n.2079+93_2079+94del
XM_011510130.3:c.1411+103_1411+104del	XP_011508432.1:n.1411+103_1411+104del
XM_017002790.1:c.1411+103_1411+104del	XP_016858279.1:n.1411+103_1411+104del
XR_001737536.2:n.1876+103_1876+104del
XR_001737537.2:n.1990+103_1990+104del
XR_001737540.2:n.2747+103_2747+104del
XR_001737541.2:n.1770+103_1770+104del
XR_002958009.1:n.2500+103_2500+104del
XR_002958010.1:n.3746+93_3746+94del
XR_002958012.1:n.1942+93_1942+94del
XR_241103.3:n.1818+103_1818+104del
XR_921997.3:n.1828+93_1828+94del
XR_921998.3:n.1932+103_1932+104del
NM_004698.4:c.1843+103_1843+104del MANE Select	NP_004689.1:n.1843+103_1843+104del