Canonical Allele Identifier: CA1007597123

Gene: PRPF3

Linked Data

• dbSNP Id: rs1658295852
• gnomAD v3: 1-150346615-TAGAA-T
• gnomAD v4: 1-150346615-TAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346619_150346622del , CM000663.2:g.150346619_150346622del	GRCh38
NC_000001.10:g.150319095_150319098del , CM000663.1:g.150319095_150319098del	GRCh37
NC_000001.9:g.148585719_148585722del	NCBI36
NG_008245.1:g.30168_30171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+128_1843+131del MANE Select	ENSP00000315379.6:n.1843+128_1843+131del
ENST00000324862.6:c.1843+128_1843+131del	ENSP00000315379.6:n.1843+128_1843+131del
ENST00000467329.5:n.2170+128_2170+131del
ENST00000476970.1:n.952+128_952+131del
NM_004698.2:c.1843+128_1843+131del	NP_004689.1:n.1843+128_1843+131del
XM_011510128.1:c.1853+118_1853+121del	XP_011508430.1:n.1853+118_1853+121del
XM_011510129.1:c.1438+128_1438+131del	XP_011508431.1:n.1438+128_1438+131del
XM_011510130.1:c.1411+128_1411+131del	XP_011508432.1:n.1411+128_1411+131del
XR_241103.1:n.1826+128_1826+131del
XR_921997.1:n.1836+118_1836+121del
XR_921998.1:n.1940+128_1940+131del
NM_001350529.1:c.1438+128_1438+131del	NP_001337458.1:n.1438+128_1438+131del
NM_004698.3:c.1843+128_1843+131del	NP_004689.1:n.1843+128_1843+131del
NR_146766.1:n.2074+128_2074+131del
NR_146767.1:n.2170+128_2170+131del
NR_146768.1:n.2026+118_2026+121del
NR_146769.1:n.2079+118_2079+121del
XM_011510130.3:c.1411+128_1411+131del	XP_011508432.1:n.1411+128_1411+131del
XM_017002790.1:c.1411+128_1411+131del	XP_016858279.1:n.1411+128_1411+131del
XR_001737536.2:n.1876+128_1876+131del
XR_001737537.2:n.1990+128_1990+131del
XR_001737540.2:n.2747+128_2747+131del
XR_001737541.2:n.1770+128_1770+131del
XR_002958009.1:n.2500+128_2500+131del
XR_002958010.1:n.3746+118_3746+121del
XR_002958012.1:n.1942+118_1942+121del
XR_241103.3:n.1818+128_1818+131del
XR_921997.3:n.1828+118_1828+121del
XR_921998.3:n.1932+128_1932+131del
NM_004698.4:c.1843+128_1843+131del MANE Select	NP_004689.1:n.1843+128_1843+131del