Canonical Allele Identifier: CA2691812682

Gene: AK1

Linked Data

• gnomAD v4: 9-127868353-CGATGACAGGTTCTGTGGCCTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868354_127868375del , CM000671.2:g.127868354_127868375del	GRCh38
NC_000009.11:g.130630633_130630654del , CM000671.1:g.130630633_130630654del	GRCh37
NC_000009.10:g.129670454_129670475del	NCBI36
NG_011792.2:g.14369_14390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.962_983del
ENST00000643029.1:c.*2137_*2158del	ENSP00000496586.1:n.*2137_*2158del
ENST00000643338.1:c.*2026_*2047del	ENSP00000495890.1:n.*2026_*2047del
ENST00000644144.2:c.462_483del MANE Select	ENSP00000494600.1:p.Tyr154Ter
ENST00000645007.1:c.*2386_*2407del	ENSP00000494773.1:n.*2386_*2407del
ENST00000646171.1:c.*495_*516del	ENSP00000495484.1:n.*495_*516del
ENST00000223836.10:c.510_531del	ENSP00000223836.10:p.Tyr170Ter
ENST00000373156.5:c.462_483del	ENSP00000362249.1:p.Tyr154Ter
ENST00000373176.5:c.462_483del	ENSP00000362271.1:p.Tyr154Ter
ENST00000413016.5:c.284_305del
ENST00000550143.5:c.242_263del	ENSP00000449130.1:n.242_263del
XM_005251786.2:c.510_531del	XP_005251843.1:p.Tyr170Ter
XM_011518348.1:c.462_483del	XP_011516650.1:p.Tyr154Ter
XM_011518349.1:c.282_303del	XP_011516651.1:p.Tyr94Ter
XM_017014428.1:c.462_483del	XP_016869917.1:p.Tyr154Ter
XM_024447439.1:c.441_462del	XP_024303207.1:p.Tyr147Ter
XM_024447440.1:c.282_303del	XP_024303208.1:p.Tyr94Ter
NM_001318122.2:c.510_531del	NP_001305051.1:p.Tyr170Ter
NM_000476.3:c.462_483del MANE Select	NP_000467.1:p.Tyr154Ter
NR_174625.1:n.3781_3802del
NR_174626.1:n.3624_3645del
NR_174627.1:n.3661_3682del
NR_174628.1:n.3039_3060del
NR_174629.1:n.2984_3005del
NR_174630.1:n.3020_3041del
NR_174631.1:n.2965_2986del
NR_174632.1:n.3054_3075del