Canonical Allele Identifier: CA2568663876

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346632_150346633insAAGA , CM000663.2:g.150346632_150346633insAAGA	GRCh38
NC_000001.10:g.150319108_150319109insAAGA , CM000663.1:g.150319108_150319109insAAGA	GRCh37
NC_000001.9:g.148585732_148585733insAAGA	NCBI36
NG_008245.1:g.30181_30182insAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1843+141_1843+142insAAGA MANE Select	ENSP00000315379.6:n.1843+141_1843+142insAAGA
ENST00000324862.6:c.1843+141_1843+142insAAGA	ENSP00000315379.6:n.1843+141_1843+142insAAGA
ENST00000467329.5:n.2170+141_2170+142insAAGA
ENST00000476970.1:n.952+141_952+142insAAGA
NM_004698.2:c.1843+141_1843+142insAAGA	NP_004689.1:n.1843+141_1843+142insAAGA
XM_011510128.1:c.1853+131_1853+132insAAGA	XP_011508430.1:n.1853+131_1853+132insAAGA
XM_011510129.1:c.1438+141_1438+142insAAGA	XP_011508431.1:n.1438+141_1438+142insAAGA
XM_011510130.1:c.1411+141_1411+142insAAGA	XP_011508432.1:n.1411+141_1411+142insAAGA
XR_241103.1:n.1826+141_1826+142insAAGA
XR_921997.1:n.1836+131_1836+132insAAGA
XR_921998.1:n.1940+141_1940+142insAAGA
NM_001350529.1:c.1438+141_1438+142insAAGA	NP_001337458.1:n.1438+141_1438+142insAAGA
NM_004698.3:c.1843+141_1843+142insAAGA	NP_004689.1:n.1843+141_1843+142insAAGA
NR_146766.1:n.2074+141_2074+142insAAGA
NR_146767.1:n.2170+141_2170+142insAAGA
NR_146768.1:n.2026+131_2026+132insAAGA
NR_146769.1:n.2079+131_2079+132insAAGA
XM_011510130.3:c.1411+141_1411+142insAAGA	XP_011508432.1:n.1411+141_1411+142insAAGA
XM_017002790.1:c.1411+141_1411+142insAAGA	XP_016858279.1:n.1411+141_1411+142insAAGA
XR_001737536.2:n.1876+141_1876+142insAAGA
XR_001737537.2:n.1990+141_1990+142insAAGA
XR_001737540.2:n.2747+141_2747+142insAAGA
XR_001737541.2:n.1770+141_1770+142insAAGA
XR_002958009.1:n.2500+141_2500+142insAAGA
XR_002958010.1:n.3746+131_3746+132insAAGA
XR_002958012.1:n.1942+131_1942+132insAAGA
XR_241103.3:n.1818+141_1818+142insAAGA
XR_921997.3:n.1828+131_1828+132insAAGA
XR_921998.3:n.1932+141_1932+142insAAGA
NM_004698.4:c.1843+141_1843+142insAAGA MANE Select	NP_004689.1:n.1843+141_1843+142insAAGA