Canonical Allele Identifier: CA2839171213

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868534_127868535del , CM000671.2:g.127868534_127868535del	GRCh38
NC_000009.11:g.130630813_130630814del , CM000671.1:g.130630813_130630814del	GRCh37
NC_000009.10:g.129670634_129670635del	NCBI36
NG_011792.1:g.14211_14212del
NG_011792.2:g.14211_14212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.825-21_825-20del
ENST00000643029.1:c.*2000-21_*2000-20del	ENSP00000496586.1:n.*2000-21_*2000-20del
ENST00000643338.1:c.*1889-21_*1889-20del	ENSP00000495890.1:n.*1889-21_*1889-20del
ENST00000644144.2:c.325-21_325-20del MANE Select	ENSP00000494600.1:n.325-21_325-20del
ENST00000645007.1:c.*2249-21_*2249-20del	ENSP00000494773.1:n.*2249-21_*2249-20del
ENST00000646171.1:c.*358-21_*358-20del	ENSP00000495484.1:n.*358-21_*358-20del
ENST00000223836.10:c.373-21_373-20del	ENSP00000223836.10:n.373-21_373-20del
ENST00000373156.5:c.325-21_325-20del	ENSP00000362249.1:n.325-21_325-20del
ENST00000373176.5:c.325-21_325-20del	ENSP00000362271.1:n.325-21_325-20del
ENST00000413016.5:c.147-21_147-20del
ENST00000550143.5:c.142-58_142-57del	ENSP00000449130.1:n.142-58_142-57del
ENST00000550992.1:c.*345-21_*345-20del	ENSP00000448741.1:n.*345-21_*345-20del
NM_000476.2:c.325-21_325-20del	NP_000467.1:n.325-21_325-20del
XM_005251786.2:c.373-21_373-20del	XP_005251843.1:n.373-21_373-20del
XM_011518348.1:c.325-21_325-20del	XP_011516650.1:n.325-21_325-20del
XM_011518349.1:c.145-21_145-20del	XP_011516651.1:n.145-21_145-20del
NM_001318121.1:c.325-21_325-20del	NP_001305050.1:n.325-21_325-20del
NM_001318122.1:c.373-21_373-20del	NP_001305051.1:n.373-21_373-20del
XM_017014428.1:c.325-21_325-20del	XP_016869917.1:n.325-21_325-20del
XM_024447439.1:c.304-21_304-20del	XP_024303207.1:n.304-21_304-20del
XM_024447440.1:c.145-21_145-20del	XP_024303208.1:n.145-21_145-20del
NM_001318122.2:c.373-21_373-20del	NP_001305051.1:n.373-21_373-20del
NM_000476.3:c.325-21_325-20del MANE Select	NP_000467.1:n.325-21_325-20del
NR_174625.1:n.3644-21_3644-20del
NR_174626.1:n.3524-58_3524-57del
NR_174627.1:n.3524-21_3524-20del
NR_174628.1:n.2902-21_2902-20del
NR_174629.1:n.2847-21_2847-20del
NR_174630.1:n.2883-21_2883-20del
NR_174631.1:n.2828-21_2828-20del
NR_174632.1:n.2917-21_2917-20del