Canonical Allele Identifier: CA30027245

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344774del , CM000663.2:g.150344774del	GRCh38
NC_000001.10:g.150317250del , CM000663.1:g.150317250del	GRCh37
NC_000001.9:g.148583874del	NCBI36
NG_008245.1:g.28323del

Transcript Alleles

HGVS	Amino-acid Change
NM_004698.4:c.1640+227del MANE Select	NP_004689.1:n.1640+227del
ENST00000324862.7:c.1640+227del MANE Select	ENSP00000315379.6:n.1640+227del
NM_001350529.1:c.1235+227del	NP_001337458.1:n.1235+227del
NM_004698.2:c.1640+227del	NP_004689.1:n.1640+227del
NM_004698.3:c.1640+227del	NP_004689.1:n.1640+227del
NR_146766.1:n.1871+227del
NR_146767.1:n.1967+227del
NR_146768.1:n.1813+227del
NR_146769.1:n.1866+227del
ENST00000324862.6:c.1640+227del	ENSP00000315379.6:n.1640+227del
ENST00000467329.5:n.1967+227del
XM_011510128.1:c.1640+227del	XP_011508430.1:n.1640+227del
XM_011510129.1:c.1235+227del	XP_011508431.1:n.1235+227del
XM_011510130.1:c.1208+227del	XP_011508432.1:n.1208+227del
XM_011510130.3:c.1208+227del	XP_011508432.1:n.1208+227del
XM_017002790.1:c.1208+227del	XP_016858279.1:n.1208+227del
XR_001737536.2:n.1792+227del
XR_001737537.2:n.1787+227del
XR_001737540.2:n.2544+227del
XR_001737541.2:n.1567+227del
XR_002958009.1:n.2297+227del
XR_002958010.1:n.2019del
XR_002958012.1:n.1729+227del
XR_241103.1:n.1742+227del
XR_241103.3:n.1734+227del
XR_241104.1:n.1800+227del
XR_921997.1:n.1742+227del
XR_921997.3:n.1734+227del
XR_921998.1:n.1737+227del
XR_921998.3:n.1729+227del