Canonical Allele Identifier: CA2586460334

Gene: PNKP

Linked Data

• gnomAD v4: 19-49861382-CAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861385_49861388del , CM000681.2:g.49861385_49861388del	GRCh38
NC_000019.9:g.50364642_50364645del , CM000681.1:g.50364642_50364645del	GRCh37
NC_000019.8:g.55056454_55056457del	NCBI36
NG_027717.1:g.11180_11183del
NG_050666.1:g.17542_17545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1449-21_1449-18del MANE Select	ENSP00000323511.2:n.1449-21_1449-18del
ENST00000636840.1:c.59+222_59+225del
ENST00000640501.1:c.55-25_55-22del
ENST00000322344.7:c.1449-21_1449-18del	ENSP00000323511.2:n.1449-21_1449-18del
ENST00000593946.5:c.*1376-21_*1376-18del	ENSP00000468896.1:n.*1376-21_*1376-18del
ENST00000594661.5:n.1950-21_1950-18del
ENST00000595081.5:n.352-21_352-18del
ENST00000596014.5:c.1449-21_1449-18del	ENSP00000472300.1:n.1449-21_1449-18del
ENST00000597965.2:c.218_221del	ENSP00000471097.2:n.218_221del
ENST00000599454.5:n.369-21_369-18del
ENST00000600573.5:c.1356-21_1356-18del	ENSP00000469826.1:n.1356-21_1356-18del
ENST00000600910.5:c.1339-21_1339-18del	ENSP00000473137.1:n.1339-21_1339-18del
ENST00000601816.3:n.521-21_521-18del
ENST00000625216.2:c.530-21_530-18del	ENSP00000486898.1:n.530-21_530-18del
ENST00000627232.2:c.1369-21_1369-18del	ENSP00000486037.1:n.1369-21_1369-18del
ENST00000631020.2:c.1341-21_1341-18del	ENSP00000486707.1:n.1341-21_1341-18del
NM_007254.3:c.1449-21_1449-18del	NP_009185.2:n.1449-21_1449-18del
NM_007254.4:c.1449-21_1449-18del MANE Select	NP_009185.2:n.1449-21_1449-18del