Canonical Allele Identifier: CA2746071784
Gene: PRPF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150346613_150346614insACA , CM000663.2:g.150346613_150346614insACA GRCh38
NC_000001.10:g.150319089_150319090insACA , CM000663.1:g.150319089_150319090insACA GRCh37
NC_000001.9:g.148585713_148585714insACA NCBI36
NG_008245.1:g.30162_30163insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000324862.7:c.1843+122_1843+123insACA MANE Select ENSP00000315379.6:n.1843+122_1843+123insACA
ENST00000324862.6:c.1843+122_1843+123insACA ENSP00000315379.6:n.1843+122_1843+123insACA
ENST00000467329.5:n.2170+122_2170+123insACA
ENST00000476970.1:n.952+122_952+123insACA
NM_004698.2:c.1843+122_1843+123insACA NP_004689.1:n.1843+122_1843+123insACA
XM_011510128.1:c.1853+112_1853+113insACA XP_011508430.1:n.1853+112_1853+113insACA
XM_011510129.1:c.1438+122_1438+123insACA XP_011508431.1:n.1438+122_1438+123insACA
XM_011510130.1:c.1411+122_1411+123insACA XP_011508432.1:n.1411+122_1411+123insACA
XR_241103.1:n.1826+122_1826+123insACA
XR_921997.1:n.1836+112_1836+113insACA
XR_921998.1:n.1940+122_1940+123insACA
NM_001350529.1:c.1438+122_1438+123insACA NP_001337458.1:n.1438+122_1438+123insACA
NM_004698.3:c.1843+122_1843+123insACA NP_004689.1:n.1843+122_1843+123insACA
NR_146766.1:n.2074+122_2074+123insACA
NR_146767.1:n.2170+122_2170+123insACA
NR_146768.1:n.2026+112_2026+113insACA
NR_146769.1:n.2079+112_2079+113insACA
XM_011510130.3:c.1411+122_1411+123insACA XP_011508432.1:n.1411+122_1411+123insACA
XM_017002790.1:c.1411+122_1411+123insACA XP_016858279.1:n.1411+122_1411+123insACA
XR_001737536.2:n.1876+122_1876+123insACA
XR_001737537.2:n.1990+122_1990+123insACA
XR_001737540.2:n.2747+122_2747+123insACA
XR_001737541.2:n.1770+122_1770+123insACA
XR_002958009.1:n.2500+122_2500+123insACA
XR_002958010.1:n.3746+112_3746+113insACA
XR_002958012.1:n.1942+112_1942+113insACA
XR_241103.3:n.1818+122_1818+123insACA
XR_921997.3:n.1828+112_1828+113insACA
XR_921998.3:n.1932+122_1932+123insACA
NM_004698.4:c.1843+122_1843+123insACA MANE Select NP_004689.1:n.1843+122_1843+123insACA