Canonical Allele Identifier: CA2340621940

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861370_49861373delinsCAGT , CM000681.2:g.49861370_49861373delinsCAGT	GRCh38
NC_000019.9:g.50364627_50364630delinsCAGT , CM000681.1:g.50364627_50364630delinsCAGT	GRCh37
NC_000019.8:g.55056439_55056442delinsCAGT	NCBI36
NG_027717.1:g.11193_11196delinsACTG
NG_050666.1:g.17527_17530delinsCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-8_1449-5delinsACTG MANE Select	ENSP00000323511.2:n.1449-8_1449-5delinsACTG
ENST00000636840.1:c.59+235_59+238delinsACTG
ENST00000640501.1:c.55-12_55-9delinsACTG
ENST00000322344.7:c.1449-8_1449-5delinsACTG	ENSP00000323511.2:n.1449-8_1449-5delinsACTG
ENST00000593946.5:c.*1376-8_*1376-5delinsACTG	ENSP00000468896.1:n.*1376-8_*1376-5delinsACTG
ENST00000594661.5:n.1950-8_1950-5delinsACTG
ENST00000595081.5:n.352-8_352-5delinsACTG
ENST00000596014.5:c.1449-8_1449-5delinsACTG	ENSP00000472300.1:n.1449-8_1449-5delinsACTG
ENST00000597965.2:c.231_234delinsACTG	ENSP00000471097.2:n.231_234delinsACTG
ENST00000599454.5:n.369-8_369-5delinsACTG
ENST00000600573.5:c.1356-8_1356-5delinsACTG	ENSP00000469826.1:n.1356-8_1356-5delinsACTG
ENST00000600910.5:c.1339-8_1339-5delinsACTG	ENSP00000473137.1:n.1339-8_1339-5delinsACTG
ENST00000601816.3:n.521-8_521-5delinsACTG
ENST00000625216.2:c.530-8_530-5delinsACTG	ENSP00000486898.1:n.530-8_530-5delinsACTG
ENST00000627232.2:c.1369-8_1369-5delinsACTG	ENSP00000486037.1:n.1369-8_1369-5delinsACTG
ENST00000631020.2:c.1341-8_1341-5delinsACTG	ENSP00000486707.1:n.1341-8_1341-5delinsACTG
NM_007254.3:c.1449-8_1449-5delinsACTG	NP_009185.2:n.1449-8_1449-5delinsACTG
NM_007254.4:c.1449-8_1449-5delinsACTG MANE Select	NP_009185.2:n.1449-8_1449-5delinsACTG