Canonical Allele Identifier: CA2580062692

Gene: AK2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33014611_33014614del , CM000663.2:g.33014611_33014614del	GRCh38
NC_000001.10:g.33480212_33480215del , CM000663.1:g.33480212_33480215del	GRCh37
NC_000001.9:g.33252799_33252802del	NCBI36
NG_016269.1:g.27281_27284del , LRG_133:g.27281_27284del

Transcript Alleles

HGVS	Amino-acid Change
NM_001625.4:c.426-17_426-14del MANE Select	NP_001616.1:n.426-17_426-14del
ENST00000672715.1:c.426-17_426-14del MANE Select	ENSP00000499935.1:n.426-17_426-14del
NM_001199199.1:c.402-17_402-14del	NP_001186128.1:n.402-17_402-14del
NM_001199199.2:c.402-17_402-14del	NP_001186128.1:n.402-17_402-14del
NM_001199199.3:c.402-17_402-14del	NP_001186128.1:n.402-17_402-14del
NM_001319139.1:c.282-17_282-14del	NP_001306068.1:n.282-17_282-14del
NM_001319139.2:c.282-17_282-14del	NP_001306068.1:n.282-17_282-14del
NM_001319139.3:c.282-17_282-14del	NP_001306068.1:n.282-17_282-14del
NM_001319140.1:c.282-17_282-14del	NP_001306069.1:n.282-17_282-14del
NM_001319140.2:c.282-17_282-14del	NP_001306069.1:n.282-17_282-14del
NM_001319141.1:c.426-17_426-14del	NP_001306070.1:n.426-17_426-14del
NM_001319141.2:c.426-17_426-14del	NP_001306070.1:n.426-17_426-14del
NM_001319141.3:c.426-17_426-14del	NP_001306070.1:n.426-17_426-14del
NM_001319142.1:c.300-17_300-14del	NP_001306071.1:n.300-17_300-14del
NM_001319142.2:c.300-17_300-14del	NP_001306071.1:n.300-17_300-14del
NM_001319142.3:c.300-17_300-14del	NP_001306071.1:n.300-17_300-14del
NM_001319143.1:c.331-17_331-14del	NP_001306072.1:n.331-17_331-14del
NM_001319143.2:c.331-17_331-14del	NP_001306072.1:n.331-17_331-14del
NM_001625.3:c.426-17_426-14del	NP_001616.1:n.426-17_426-14del
NM_013411.4:c.426-17_426-14del	NP_037543.1:n.426-17_426-14del
NM_013411.5:c.426-17_426-14del	NP_037543.1:n.426-17_426-14del
NR_037591.1:n.627-17_627-14del
NR_037592.1:n.627-17_627-14del
NR_134976.1:n.414-17_414-14del
NR_134976.2:n.386-17_386-14del
NR_134976.3:n.386-17_386-14del
ENST00000354858.10:c.426-17_426-14del	ENSP00000346921.6:n.426-17_426-14del
ENST00000354858.11:c.300-17_300-14del	ENSP00000346921.7:n.300-17_300-14del
ENST00000373449.6:c.426-17_426-14del	ENSP00000362548.2:n.426-17_426-14del
ENST00000373449.7:c.426-17_426-14del	ENSP00000362548.2:n.426-17_426-14del
ENST00000466029.1:n.112-17_112-14del
ENST00000467905.5:c.426-17_426-14del	ENSP00000447082.1:n.426-17_426-14del
ENST00000469238.1:n.194-17_194-14del
ENST00000469238.2:n.459-17_459-14del
ENST00000480134.5:c.331-17_331-14del	ENSP00000450109.1:n.331-17_331-14del
ENST00000491241.2:c.*415-17_*415-14del	ENSP00000512049.1:n.*415-17_*415-14del
ENST00000548033.5:c.300-17_300-14del	ENSP00000449003.1:n.300-17_300-14del
ENST00000550338.5:c.*415-17_*415-14del	ENSP00000450008.1:n.*415-17_*415-14del
ENST00000550338.6:c.*415-17_*415-14del	ENSP00000450008.1:n.*415-17_*415-14del
ENST00000629371.2:c.331-17_331-14del	ENSP00000486507.1:n.331-17_331-14del
ENST00000672308.1:n.461-17_461-14del
ENST00000695598.1:n.1565-17_1565-14del
ENST00000695599.1:c.*5308-17_*5308-14del	ENSP00000512046.1:n.*5308-17_*5308-14del
ENST00000695600.1:n.621-17_621-14del
ENST00000695601.1:c.*415-17_*415-14del	ENSP00000512047.1:n.*415-17_*415-14del
ENST00000695602.1:c.*415-17_*415-14del	ENSP00000512048.1:n.*415-17_*415-14del
ENST00000695603.1:n.459-17_459-14del
ENST00000695604.1:c.*232-17_*232-14del	ENSP00000512050.1:n.*232-17_*232-14del
XM_011540967.1:c.331-17_331-14del	XP_011539269.1:n.331-17_331-14del
XR_001737036.1:n.371-17_371-14del
XR_246248.1:n.466-17_466-14del
XR_246248.2:n.466-17_466-14del
XR_946575.1:n.371-17_371-14del