Canonical Allele Identifier: CA5253336

Gene: AK1

Linked Data

• dbSNP Id: rs763200874
• ExAC: 9:130630638 CA / C
• gnomAD v2: 9-130630638-CA-C
• gnomAD v4: 9-127868359-CA-C
• MyVariant Identifiers: chr9:g.130630639del (hg19) ; chr9:g.127868360del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868360del , CM000671.2:g.127868360del	GRCh38
NC_000009.11:g.130630639del , CM000671.1:g.130630639del	GRCh37
NC_000009.10:g.129670460del	NCBI36
NG_011792.2:g.14384del

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.977del
ENST00000643029.1:c.*2152del	ENSP00000496586.1:n.*2152del
ENST00000643338.1:c.*2041del	ENSP00000495890.1:n.*2041del
ENST00000644144.2:c.477del MANE Select	ENSP00000494600.1:p.Val160SerfsTer?
ENST00000645007.1:c.*2401del	ENSP00000494773.1:n.*2401del
ENST00000646171.1:c.*510del	ENSP00000495484.1:n.*510del
ENST00000223836.10:c.525del	ENSP00000223836.10:p.Val176SerfsTer?
ENST00000373156.5:c.477del	ENSP00000362249.1:p.Val160SerfsTer?
ENST00000373176.5:c.477del	ENSP00000362271.1:p.Val160SerfsTer?
ENST00000413016.5:c.299del
ENST00000550143.5:c.257del	ENSP00000449130.1:n.257del
XM_005251786.2:c.525del	XP_005251843.1:p.Val176SerfsTer?
XM_011518348.1:c.477del	XP_011516650.1:p.Val160SerfsTer?
XM_011518349.1:c.297del	XP_011516651.1:p.Val100SerfsTer?
XM_017014428.1:c.477del	XP_016869917.1:p.Val160SerfsTer?
XM_024447439.1:c.456del	XP_024303207.1:p.Val153SerfsTer?
XM_024447440.1:c.297del	XP_024303208.1:p.Val100SerfsTer?
NM_001318122.2:c.525del	NP_001305051.1:p.Val176SerfsTer?
NM_000476.3:c.477del MANE Select	NP_000467.1:p.Val160SerfsTer?
NR_174625.1:n.3796del
NR_174626.1:n.3639del
NR_174627.1:n.3676del
NR_174628.1:n.3054del
NR_174629.1:n.2999del
NR_174630.1:n.3035del
NR_174631.1:n.2980del
NR_174632.1:n.3069del