Canonical Allele Identifier: CA420682824

Gene: PRPF3

Linked Data

• dbSNP Id: rs201979121
• gnomAD v2: 1-150319070-CTAGA-C
• gnomAD v3: 1-150346594-CTAGA-C
• gnomAD v4: 1-150346594-CTAGA-C
• MyVariant Identifiers: chr1:g.150319071_150319074del (hg19) ; chr1:g.150346595_150346598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346598_150346601del , CM000663.2:g.150346598_150346601del	GRCh38
NC_000001.10:g.150319074_150319077del , CM000663.1:g.150319074_150319077del	GRCh37
NC_000001.9:g.148585698_148585701del	NCBI36
NG_008245.1:g.30147_30150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+107_1843+110del MANE Select	ENSP00000315379.6:n.1843+107_1843+110del
ENST00000324862.6:c.1843+107_1843+110del	ENSP00000315379.6:n.1843+107_1843+110del
ENST00000467329.5:n.2170+107_2170+110del
ENST00000476970.1:n.952+107_952+110del
NM_004698.2:c.1843+107_1843+110del	NP_004689.1:n.1843+107_1843+110del
XM_011510128.1:c.1853+97_1853+100del	XP_011508430.1:n.1853+97_1853+100del
XM_011510129.1:c.1438+107_1438+110del	XP_011508431.1:n.1438+107_1438+110del
XM_011510130.1:c.1411+107_1411+110del	XP_011508432.1:n.1411+107_1411+110del
XR_241103.1:n.1826+107_1826+110del
XR_921997.1:n.1836+97_1836+100del
XR_921998.1:n.1940+107_1940+110del
NM_001350529.1:c.1438+107_1438+110del	NP_001337458.1:n.1438+107_1438+110del
NM_004698.3:c.1843+107_1843+110del	NP_004689.1:n.1843+107_1843+110del
NR_146766.1:n.2074+107_2074+110del
NR_146767.1:n.2170+107_2170+110del
NR_146768.1:n.2026+97_2026+100del
NR_146769.1:n.2079+97_2079+100del
XM_011510130.3:c.1411+107_1411+110del	XP_011508432.1:n.1411+107_1411+110del
XM_017002790.1:c.1411+107_1411+110del	XP_016858279.1:n.1411+107_1411+110del
XR_001737536.2:n.1876+107_1876+110del
XR_001737537.2:n.1990+107_1990+110del
XR_001737540.2:n.2747+107_2747+110del
XR_001737541.2:n.1770+107_1770+110del
XR_002958009.1:n.2500+107_2500+110del
XR_002958010.1:n.3746+97_3746+100del
XR_002958012.1:n.1942+97_1942+100del
XR_241103.3:n.1818+107_1818+110del
XR_921997.3:n.1828+97_1828+100del
XR_921998.3:n.1932+107_1932+110del
NM_004698.4:c.1843+107_1843+110del MANE Select	NP_004689.1:n.1843+107_1843+110del