Canonical Allele Identifier: CA1075708

Gene: PRPF3

Linked Data

• dbSNP Id: rs782804522
• ExAC: 1:150318980 T / TA
• gnomAD v2: 1-150318980-T-TA
• gnomAD v4: 1-150346504-T-TA
• MyVariant Identifiers: chr1:g.150318980_150318981insA (hg19) ; chr1:g.150346504_150346505insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346505dup , CM000663.2:g.150346505dup	GRCh38
NC_000001.10:g.150318981dup , CM000663.1:g.150318981dup	GRCh37
NC_000001.9:g.148585605dup	NCBI36
NG_008245.1:g.30054dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+14dup MANE Select	ENSP00000315379.6:n.1843+14dup
ENST00000324862.6:c.1843+14dup	ENSP00000315379.6:n.1843+14dup
ENST00000467329.5:n.2170+14dup
ENST00000476970.1:n.952+14dup
NM_004698.2:c.1843+14dup	NP_004689.1:n.1843+14dup
XM_011510128.1:c.1853+4dup	XP_011508430.1:n.1853+4dup
XM_011510129.1:c.1438+14dup	XP_011508431.1:n.1438+14dup
XM_011510130.1:c.1411+14dup	XP_011508432.1:n.1411+14dup
XR_241103.1:n.1826+14dup
XR_921997.1:n.1836+4dup
XR_921998.1:n.1940+14dup
NM_001350529.1:c.1438+14dup	NP_001337458.1:n.1438+14dup
NM_004698.3:c.1843+14dup	NP_004689.1:n.1843+14dup
NR_146766.1:n.2074+14dup
NR_146767.1:n.2170+14dup
NR_146768.1:n.2026+4dup
NR_146769.1:n.2079+4dup
XM_011510130.3:c.1411+14dup	XP_011508432.1:n.1411+14dup
XM_017002790.1:c.1411+14dup	XP_016858279.1:n.1411+14dup
XR_001737536.2:n.1876+14dup
XR_001737537.2:n.1990+14dup
XR_001737540.2:n.2747+14dup
XR_001737541.2:n.1770+14dup
XR_002958009.1:n.2500+14dup
XR_002958010.1:n.3746+4dup
XR_002958012.1:n.1942+4dup
XR_241103.3:n.1818+14dup
XR_921997.3:n.1828+4dup
XR_921998.3:n.1932+14dup
NM_004698.4:c.1843+14dup MANE Select	NP_004689.1:n.1843+14dup