Canonical Allele Identifier: CA417066574
Community Standard Title: NM_001625.4(AK2):c.500_501insGACAT (p.Ile167MetfsTer8)
Gene: AK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.33013402_33013403insGTCAT , CM000663.2:g.33013402_33013403insGTCAT GRCh38
NC_000001.10:g.33479003_33479004insGTCAT , CM000663.1:g.33479003_33479004insGTCAT GRCh37
NC_000001.9:g.33251590_33251591insGTCAT NCBI36
NG_016269.1:g.28491_28492insGACAT , LRG_133:g.28491_28492insGACAT

Transcript Alleles

HGVS Amino-acid Change
NM_001625.4:c.500_501insGACAT MANE Select NP_001616.1:p.Ile167MetfsTer8
ENST00000672715.1:c.500_501insGACAT MANE Select ENSP00000499935.1:p.Ile167MetfsTer8
NM_001199199.1:c.476_477insGACAT NP_001186128.1:p.Ile159MetfsTer8
NM_001199199.2:c.476_477insGACAT NP_001186128.1:p.Ile159MetfsTer8
NM_001199199.3:c.476_477insGACAT NP_001186128.1:p.Ile159MetfsTer8
NM_001319139.1:c.356_357insGACAT NP_001306068.1:p.Ile119MetfsTer8
NM_001319139.2:c.356_357insGACAT NP_001306068.1:p.Ile119MetfsTer8
NM_001319139.3:c.356_357insGACAT NP_001306068.1:p.Ile119MetfsTer8
NM_001319140.1:c.356_357insGACAT NP_001306069.1:p.Ile119MetfsTer8
NM_001319140.2:c.356_357insGACAT NP_001306069.1:p.Ile119MetfsTer8
NM_001319141.1:c.500_501insGACAT NP_001306070.1:p.Ile167MetfsTer8
NM_001319141.2:c.500_501insGACAT NP_001306070.1:p.Ile167MetfsTer8
NM_001319141.3:c.500_501insGACAT NP_001306070.1:p.Ile167MetfsTer8
NM_001319142.1:c.374_375insGACAT NP_001306071.1:p.Ile125MetfsTer8
NM_001319142.2:c.374_375insGACAT NP_001306071.1:p.Ile125MetfsTer8
NM_001319142.3:c.374_375insGACAT NP_001306071.1:p.Ile125MetfsTer8
NM_001319143.1:c.*3_*4insGACAT NP_001306072.1:n.*3_*4insGACAT
NM_001319143.2:c.*3_*4insGACAT NP_001306072.1:n.*3_*4insGACAT
NM_001625.3:c.500_501insGACAT NP_001616.1:p.Ile167MetfsTer8
NM_013411.4:c.500_501insGACAT NP_037543.1:p.Ile167MetfsTer8
NM_013411.5:c.500_501insGACAT NP_037543.1:p.Ile167MetfsTer8
NR_037591.1:n.701_702insGACAT
NR_037592.1:n.701_702insGACAT
NR_134976.1:n.488_489insGACAT
NR_134976.2:n.460_461insGACAT
NR_134976.3:n.460_461insGACAT
ENST00000354858.10:c.500_501insGACAT ENSP00000346921.6:p.Ile167MetfsTer8
ENST00000354858.11:c.374_375insGACAT ENSP00000346921.7:p.Ile125MetfsTer8
ENST00000373449.6:c.500_501insGACAT ENSP00000362548.2:p.Ile167MetfsTer8
ENST00000373449.7:c.500_501insGACAT ENSP00000362548.2:p.Ile167MetfsTer8
ENST00000467905.5:c.500_501insGACAT ENSP00000447082.1:p.Ile167MetfsTer8
ENST00000469238.2:n.1652_1653insGACAT
ENST00000480134.5:c.*3_*4insGACAT ENSP00000450109.1:n.*3_*4insGACAT
ENST00000491241.2:c.*489_*490insGACAT ENSP00000512049.1:n.*489_*490insGACAT
ENST00000548033.5:c.374_375insGACAT ENSP00000449003.1:p.Ile125MetfsTer8
ENST00000550338.5:c.*489_*490insGACAT ENSP00000450008.1:n.*489_*490insGACAT
ENST00000550338.6:c.*489_*490insGACAT ENSP00000450008.1:n.*489_*490insGACAT
ENST00000629371.2:c.*3_*4insGACAT ENSP00000486507.1:n.*3_*4insGACAT
ENST00000672308.1:n.535_536insGACAT
ENST00000695598.1:n.1639_1640insGACAT
ENST00000695599.1:c.*5382_*5383insGACAT ENSP00000512046.1:n.*5382_*5383insGACAT
ENST00000695600.1:n.1814_1815insGACAT
ENST00000695601.1:c.*489_*490insGACAT ENSP00000512047.1:n.*489_*490insGACAT
ENST00000695602.1:c.*489_*490insGACAT ENSP00000512048.1:n.*489_*490insGACAT
ENST00000695603.1:n.1652_1653insGACAT
ENST00000695604.1:c.*306_*307insGACAT ENSP00000512050.1:n.*306_*307insGACAT
XM_011540967.1:c.*3_*4insGACAT XP_011539269.1:n.*3_*4insGACAT
XR_001737036.1:n.445_446insGACAT
XR_246248.1:n.540_541insGACAT
XR_246248.2:n.540_541insGACAT
XR_946575.1:n.445_446insGACAT