Canonical Allele Identifier: CA2604610506

Gene: PRPF3

Linked Data

• gnomAD v3: 1-150346686-A-ATGGTAAAGCTATTTTTTTGCCTATCAT
• gnomAD v4: 1-150346686-A-ATGGTAAAGCTATTTTTTTGCCTATCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346688_150346714dup , CM000663.2:g.150346688_150346714dup	GRCh38
NC_000001.10:g.150319164_150319190dup , CM000663.1:g.150319164_150319190dup	GRCh37
NC_000001.9:g.148585788_148585814dup	NCBI36
NG_008245.1:g.30237_30263dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+197_1843+223dup MANE Select	ENSP00000315379.6:n.1843+197_1843+223dup
ENST00000324862.6:c.1843+197_1843+223dup	ENSP00000315379.6:n.1843+197_1843+223dup
ENST00000467329.5:n.2170+197_2170+223dup
ENST00000476970.1:n.952+197_952+223dup
NM_004698.2:c.1843+197_1843+223dup	NP_004689.1:n.1843+197_1843+223dup
XM_011510128.1:c.1853+187_1853+213dup	XP_011508430.1:n.1853+187_1853+213dup
XM_011510129.1:c.1438+197_1438+223dup	XP_011508431.1:n.1438+197_1438+223dup
XM_011510130.1:c.1411+197_1411+223dup	XP_011508432.1:n.1411+197_1411+223dup
XR_241103.1:n.1826+197_1826+223dup
XR_921997.1:n.1836+187_1836+213dup
XR_921998.1:n.1940+197_1940+223dup
NM_001350529.1:c.1438+197_1438+223dup	NP_001337458.1:n.1438+197_1438+223dup
NM_004698.3:c.1843+197_1843+223dup	NP_004689.1:n.1843+197_1843+223dup
NR_146766.1:n.2074+197_2074+223dup
NR_146767.1:n.2170+197_2170+223dup
NR_146768.1:n.2026+187_2026+213dup
NR_146769.1:n.2079+187_2079+213dup
XM_011510130.3:c.1411+197_1411+223dup	XP_011508432.1:n.1411+197_1411+223dup
XM_017002790.1:c.1411+197_1411+223dup	XP_016858279.1:n.1411+197_1411+223dup
XR_001737536.2:n.1876+197_1876+223dup
XR_001737537.2:n.1990+197_1990+223dup
XR_001737540.2:n.2747+197_2747+223dup
XR_001737541.2:n.1770+197_1770+223dup
XR_002958009.1:n.2500+197_2500+223dup
XR_002958010.1:n.3746+187_3746+213dup
XR_002958012.1:n.1942+187_1942+213dup
XR_241103.3:n.1818+197_1818+223dup
XR_921997.3:n.1828+187_1828+213dup
XR_921998.3:n.1932+197_1932+223dup
NM_004698.4:c.1843+197_1843+223dup MANE Select	NP_004689.1:n.1843+197_1843+223dup