Canonical Allele Identifier: CA526033785

Gene: PRPF3

Linked Data

• dbSNP Id: rs1553873004
• gnomAD v2: 1-150319012-TG-T
• gnomAD v4: 1-150346536-TG-T
• MyVariant Identifiers: chr1:g.150319013del (hg19) ; chr1:g.150346537del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346540del , CM000663.2:g.150346540del	GRCh38
NC_000001.10:g.150319016del , CM000663.1:g.150319016del	GRCh37
NC_000001.9:g.148585640del	NCBI36
NG_008245.1:g.30089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+49del MANE Select	ENSP00000315379.6:n.1843+49del
ENST00000324862.6:c.1843+49del	ENSP00000315379.6:n.1843+49del
ENST00000467329.5:n.2170+49del
ENST00000476970.1:n.952+49del
NM_004698.2:c.1843+49del	NP_004689.1:n.1843+49del
XM_011510128.1:c.1853+39del	XP_011508430.1:n.1853+39del
XM_011510129.1:c.1438+49del	XP_011508431.1:n.1438+49del
XM_011510130.1:c.1411+49del	XP_011508432.1:n.1411+49del
XR_241103.1:n.1826+49del
XR_921997.1:n.1836+39del
XR_921998.1:n.1940+49del
NM_001350529.1:c.1438+49del	NP_001337458.1:n.1438+49del
NM_004698.3:c.1843+49del	NP_004689.1:n.1843+49del
NR_146766.1:n.2074+49del
NR_146767.1:n.2170+49del
NR_146768.1:n.2026+39del
NR_146769.1:n.2079+39del
XM_011510130.3:c.1411+49del	XP_011508432.1:n.1411+49del
XM_017002790.1:c.1411+49del	XP_016858279.1:n.1411+49del
XR_001737536.2:n.1876+49del
XR_001737537.2:n.1990+49del
XR_001737540.2:n.2747+49del
XR_001737541.2:n.1770+49del
XR_002958009.1:n.2500+49del
XR_002958010.1:n.3746+39del
XR_002958012.1:n.1942+39del
XR_241103.3:n.1818+49del
XR_921997.3:n.1828+39del
XR_921998.3:n.1932+49del
NM_004698.4:c.1843+49del MANE Select	NP_004689.1:n.1843+49del