Canonical Allele Identifier: CA1880009250

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868183_127868185delinsGAC , CM000671.2:g.127868183_127868185delinsGAC	GRCh38
NC_000009.11:g.130630462_130630464delinsGAC , CM000671.1:g.130630462_130630464delinsGAC	GRCh37
NC_000009.10:g.129670283_129670285delinsGAC	NCBI36
NG_011792.1:g.14559_14561delinsGTC
NG_011792.2:g.14559_14561delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1017-109_1017-107delinsGTC
ENST00000643029.1:c.*2192-109_*2192-107delinsGTC	ENSP00000496586.1:n.*2192-109_*2192-107delinsGTC
ENST00000643338.1:c.*2081-109_*2081-107delinsGTC	ENSP00000495890.1:n.*2081-109_*2081-107delinsGTC
ENST00000644144.2:c.517-109_517-107delinsGTC MANE Select	ENSP00000494600.1:n.517-109_517-107delinsGTC
ENST00000645007.1:c.*2441-109_*2441-107delinsGTC	ENSP00000494773.1:n.*2441-109_*2441-107delinsGTC
ENST00000646171.1:c.*550-109_*550-107delinsGTC	ENSP00000495484.1:n.*550-109_*550-107delinsGTC
ENST00000223836.10:c.565-109_565-107delinsGTC	ENSP00000223836.10:n.565-109_565-107delinsGTC
ENST00000373156.5:c.517-109_517-107delinsGTC	ENSP00000362249.1:n.517-109_517-107delinsGTC
ENST00000373176.5:c.517-109_517-107delinsGTC	ENSP00000362271.1:n.517-109_517-107delinsGTC
ENST00000413016.5:c.339-109_339-107delinsGTC
ENST00000550143.5:c.297-109_297-107delinsGTC	ENSP00000449130.1:n.297-109_297-107delinsGTC
NM_000476.2:c.517-109_517-107delinsGTC	NP_000467.1:n.517-109_517-107delinsGTC
XM_005251786.2:c.565-109_565-107delinsGTC	XP_005251843.1:n.565-109_565-107delinsGTC
XM_011518348.1:c.517-109_517-107delinsGTC	XP_011516650.1:n.517-109_517-107delinsGTC
XM_011518349.1:c.337-109_337-107delinsGTC	XP_011516651.1:n.337-109_337-107delinsGTC
NM_001318121.1:c.517-109_517-107delinsGTC	NP_001305050.1:n.517-109_517-107delinsGTC
NM_001318122.1:c.565-109_565-107delinsGTC	NP_001305051.1:n.565-109_565-107delinsGTC
XM_017014428.1:c.517-109_517-107delinsGTC	XP_016869917.1:n.517-109_517-107delinsGTC
XM_024447439.1:c.496-109_496-107delinsGTC	XP_024303207.1:n.496-109_496-107delinsGTC
XM_024447440.1:c.337-109_337-107delinsGTC	XP_024303208.1:n.337-109_337-107delinsGTC
NM_001318122.2:c.565-109_565-107delinsGTC	NP_001305051.1:n.565-109_565-107delinsGTC
NM_000476.3:c.517-109_517-107delinsGTC MANE Select	NP_000467.1:n.517-109_517-107delinsGTC
NR_174625.1:n.3836-109_3836-107delinsGTC
NR_174626.1:n.3679-109_3679-107delinsGTC
NR_174627.1:n.3716-109_3716-107delinsGTC
NR_174628.1:n.3094-109_3094-107delinsGTC
NR_174629.1:n.3039-109_3039-107delinsGTC
NR_174630.1:n.3075-109_3075-107delinsGTC
NR_174631.1:n.3020-109_3020-107delinsGTC
NR_174632.1:n.3109-109_3109-107delinsGTC