Canonical Allele Identifier: CA1139771049

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33013356del , CM000663.2:g.33013356del	GRCh38
NC_000001.10:g.33478957del , CM000663.1:g.33478957del	GRCh37
NC_000001.9:g.33251544del	NCBI36
NG_016269.1:g.28537del , LRG_133:g.28537del

Transcript Alleles

HGVS	Amino-acid change
ENST00000469238.2:n.1698del
ENST00000491241.2:c.*535del	ENSP00000512049.1:n.*535del
ENST00000550338.6:c.*535del	ENSP00000450008.1:n.*535del
ENST00000695598.1:n.1685del
ENST00000695599.1:c.*5428del	ENSP00000512046.1:n.*5428del
ENST00000695600.1:n.1860del
ENST00000695601.1:c.*535del	ENSP00000512047.1:n.*535del
ENST00000695602.1:c.*535del	ENSP00000512048.1:n.*535del
ENST00000695603.1:n.1698del
ENST00000695604.1:c.*352del	ENSP00000512050.1:n.*352del
ENST00000354858.11:c.420del	ENSP00000346921.7:p.Leu141Ter
ENST00000373449.7:c.546del	ENSP00000362548.2:p.Leu183Ter
ENST00000672308.1:n.581del
ENST00000672715.1:c.546del MANE Select	ENSP00000499935.1:p.Leu183Ter
ENST00000354858.10:c.546del	ENSP00000346921.6:p.Leu183Ter
ENST00000373449.6:c.546del	ENSP00000362548.2:p.Leu183Ter
ENST00000467905.5:c.546del	ENSP00000447082.1:p.Leu183Ter
ENST00000480134.5:c.*49del	ENSP00000450109.1:n.*49del
ENST00000548033.5:c.420del	ENSP00000449003.1:p.Leu141Ter
ENST00000550338.5:c.*535del	ENSP00000450008.1:n.*535del
ENST00000629371.2:c.*49del	ENSP00000486507.1:n.*49del
NM_001199199.1:c.522del	NP_001186128.1:p.Leu175Ter
NM_001625.3:c.546del	NP_001616.1:p.Leu183Ter
NM_013411.4:c.546del	NP_037543.1:p.Leu183Ter
NR_037591.1:n.747del
NR_037592.1:n.747del
XM_011540967.1:c.*49del	XP_011539269.1:n.*49del
XR_246248.1:n.586del
XR_946575.1:n.491del
NM_001319139.1:c.402del	NP_001306068.1:p.Leu135Ter
NM_001319140.1:c.402del	NP_001306069.1:p.Leu135Ter
NM_001319141.1:c.546del	NP_001306070.1:p.Leu183Ter
NM_001319142.1:c.420del	NP_001306071.1:p.Leu141Ter
NM_001319143.1:c.*49del	NP_001306072.1:n.*49del
NR_134976.1:n.534del
XR_001737036.1:n.491del
XR_246248.2:n.586del
NM_001199199.2:c.522del	NP_001186128.1:p.Leu175Ter
NM_001319139.2:c.402del	NP_001306068.1:p.Leu135Ter
NM_001319141.2:c.546del	NP_001306070.1:p.Leu183Ter
NM_001319142.2:c.420del	NP_001306071.1:p.Leu141Ter
NM_001625.4:c.546del MANE Select	NP_001616.1:p.Leu183Ter
NM_013411.5:c.546del	NP_037543.1:p.Leu183Ter
NR_134976.2:n.506del
NM_001199199.3:c.522del	NP_001186128.1:p.Leu175Ter
NM_001319139.3:c.402del	NP_001306068.1:p.Leu135Ter
NM_001319140.2:c.402del	NP_001306069.1:p.Leu135Ter
NM_001319141.3:c.546del	NP_001306070.1:p.Leu183Ter
NM_001319142.3:c.420del	NP_001306071.1:p.Leu141Ter
NM_001319143.2:c.*49del	NP_001306072.1:n.*49del
NR_134976.3:n.506del