Canonical Allele Identifier: CA2691812718

Gene: AK1

Linked Data

• gnomAD v4: 9-127868560-GCCATCTCCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868567_127868577del , CM000671.2:g.127868567_127868577del	GRCh38
NC_000009.11:g.130630846_130630856del , CM000671.1:g.130630846_130630856del	GRCh37
NC_000009.10:g.129670667_129670677del	NCBI36
NG_011792.1:g.14173_14183del
NG_011792.2:g.14173_14183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.825-59_825-49del
ENST00000643029.1:c.*2000-59_*2000-49del	ENSP00000496586.1:n.*2000-59_*2000-49del
ENST00000643338.1:c.*1889-59_*1889-49del	ENSP00000495890.1:n.*1889-59_*1889-49del
ENST00000644144.2:c.325-59_325-49del MANE Select	ENSP00000494600.1:n.325-59_325-49del
ENST00000645007.1:c.*2249-59_*2249-49del	ENSP00000494773.1:n.*2249-59_*2249-49del
ENST00000646171.1:c.*358-59_*358-49del	ENSP00000495484.1:n.*358-59_*358-49del
ENST00000223836.10:c.373-59_373-49del	ENSP00000223836.10:n.373-59_373-49del
ENST00000373156.5:c.325-59_325-49del	ENSP00000362249.1:n.325-59_325-49del
ENST00000373176.5:c.325-59_325-49del	ENSP00000362271.1:n.325-59_325-49del
ENST00000413016.5:c.147-59_147-49del
ENST00000550143.5:c.142-96_142-86del	ENSP00000449130.1:n.142-96_142-86del
ENST00000550992.1:c.*345-59_*345-49del	ENSP00000448741.1:n.*345-59_*345-49del
NM_000476.2:c.325-59_325-49del	NP_000467.1:n.325-59_325-49del
XM_005251786.2:c.373-59_373-49del	XP_005251843.1:n.373-59_373-49del
XM_011518348.1:c.325-59_325-49del	XP_011516650.1:n.325-59_325-49del
XM_011518349.1:c.145-59_145-49del	XP_011516651.1:n.145-59_145-49del
NM_001318121.1:c.325-59_325-49del	NP_001305050.1:n.325-59_325-49del
NM_001318122.1:c.373-59_373-49del	NP_001305051.1:n.373-59_373-49del
XM_017014428.1:c.325-59_325-49del	XP_016869917.1:n.325-59_325-49del
XM_024447439.1:c.304-59_304-49del	XP_024303207.1:n.304-59_304-49del
XM_024447440.1:c.145-59_145-49del	XP_024303208.1:n.145-59_145-49del
NM_001318122.2:c.373-59_373-49del	NP_001305051.1:n.373-59_373-49del
NM_000476.3:c.325-59_325-49del MANE Select	NP_000467.1:n.325-59_325-49del
NR_174625.1:n.3644-59_3644-49del
NR_174626.1:n.3524-96_3524-86del
NR_174627.1:n.3524-59_3524-49del
NR_174628.1:n.2902-59_2902-49del
NR_174629.1:n.2847-59_2847-49del
NR_174630.1:n.2883-59_2883-49del
NR_174631.1:n.2828-59_2828-49del
NR_174632.1:n.2917-59_2917-49del