Canonical Allele Identifier: CA2842564137

Gene: AGK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141649268dup , CM000669.2:g.141649268dup	GRCh38
NC_000007.13:g.141349068dup , CM000669.1:g.141349068dup	GRCh37
NC_000007.12:g.140995537dup	NCBI36
NG_032079.1:g.102991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.*944dup	ENSP00000497039.1:n.*944dup
ENST00000648068.1:c.981dup	ENSP00000498112.1:p.Glu328ArgfsTer9
ENST00000648395.1:c.705dup	ENSP00000497666.1:p.Glu236ArgfsTer9
ENST00000648489.1:n.1012dup
ENST00000649014.1:c.*256dup	ENSP00000497984.1:n.*256dup
ENST00000649286.2:c.981dup MANE Select	ENSP00000497280.1:p.Glu328ArgfsTer9
ENST00000649365.1:c.*989dup	ENSP00000496835.1:n.*989dup
ENST00000649790.1:c.*417dup	ENSP00000498193.1:n.*417dup
ENST00000649914.1:c.969dup	ENSP00000497848.1:p.Glu324ArgfsTer9
ENST00000650006.1:c.981dup	ENSP00000497457.1:p.Glu328ArgfsTer9
ENST00000650365.1:c.*866dup	ENSP00000497358.1:n.*866dup
ENST00000650547.1:c.981dup	ENSP00000496789.1:p.Glu328ArgfsTer9
ENST00000355413.8:c.981dup	ENSP00000347581.4:p.Glu328ArgfsTer9
ENST00000473247.5:c.897dup	ENSP00000420776.1:p.Glu300ArgfsTer9
ENST00000494053.1:n.138dup
ENST00000494688.1:c.*86dup	ENSP00000418101.1:n.*86dup
ENST00000629555.2:c.*86dup	ENSP00000487274.1:n.*86dup
NM_018238.3:c.981dup	NP_060708.1:p.Glu328ArgfsTer9
XM_005250023.3:c.981dup	XP_005250080.1:p.Glu328ArgfsTer9
XM_011516397.1:c.981dup	XP_011514699.1:p.Glu328ArgfsTer9
NM_001364948.1:c.981dup	NP_001351877.1:p.Glu328ArgfsTer9
NM_018238.4:c.981dup MANE Select	NP_060708.1:p.Glu328ArgfsTer9
XM_011516397.3:c.981dup	XP_011514699.1:p.Glu328ArgfsTer9
XM_024446835.1:c.981dup	XP_024302603.1:p.Glu328ArgfsTer9
NM_001364948.2:c.981dup	NP_001351877.1:p.Glu328ArgfsTer9
NM_001364948.3:c.981dup	NP_001351877.1:p.Glu328ArgfsTer9