Canonical Allele Identifier: CA1880009273

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868234_127868239delinsGCTGGC , CM000671.2:g.127868234_127868239delinsGCTGGC	GRCh38
NC_000009.11:g.130630513_130630518delinsGCTGGC , CM000671.1:g.130630513_130630518delinsGCTGGC	GRCh37
NC_000009.10:g.129670334_129670339delinsGCTGGC	NCBI36
NG_011792.1:g.14505_14510delinsGCCAGC
NG_011792.2:g.14505_14510delinsGCCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1016+82_1016+87delinsGCCAGC
ENST00000643029.1:c.*2191+82_*2191+87delinsGCCAGC	ENSP00000496586.1:n.*2191+82_*2191+87delinsGCCAGC
ENST00000643338.1:c.*2080+82_*2080+87delinsGCCAGC	ENSP00000495890.1:n.*2080+82_*2080+87delinsGCCAGC
ENST00000644144.2:c.516+82_516+87delinsGCCAGC MANE Select	ENSP00000494600.1:n.516+82_516+87delinsGCCAGC
ENST00000645007.1:c.*2440+82_*2440+87delinsGCCAGC	ENSP00000494773.1:n.*2440+82_*2440+87delinsGCCAGC
ENST00000646171.1:c.*549+82_*549+87delinsGCCAGC	ENSP00000495484.1:n.*549+82_*549+87delinsGCCAGC
ENST00000223836.10:c.564+82_564+87delinsGCCAGC	ENSP00000223836.10:n.564+82_564+87delinsGCCAGC
ENST00000373156.5:c.516+82_516+87delinsGCCAGC	ENSP00000362249.1:n.516+82_516+87delinsGCCAGC
ENST00000373176.5:c.516+82_516+87delinsGCCAGC	ENSP00000362271.1:n.516+82_516+87delinsGCCAGC
ENST00000413016.5:c.338+82_338+87delinsGCCAGC
ENST00000550143.5:c.296+82_296+87delinsGCCAGC	ENSP00000449130.1:n.296+82_296+87delinsGCCAGC
NM_000476.2:c.516+82_516+87delinsGCCAGC	NP_000467.1:n.516+82_516+87delinsGCCAGC
XM_005251786.2:c.564+82_564+87delinsGCCAGC	XP_005251843.1:n.564+82_564+87delinsGCCAGC
XM_011518348.1:c.516+82_516+87delinsGCCAGC	XP_011516650.1:n.516+82_516+87delinsGCCAGC
XM_011518349.1:c.336+82_336+87delinsGCCAGC	XP_011516651.1:n.336+82_336+87delinsGCCAGC
NM_001318121.1:c.516+82_516+87delinsGCCAGC	NP_001305050.1:n.516+82_516+87delinsGCCAGC
NM_001318122.1:c.564+82_564+87delinsGCCAGC	NP_001305051.1:n.564+82_564+87delinsGCCAGC
XM_017014428.1:c.516+82_516+87delinsGCCAGC	XP_016869917.1:n.516+82_516+87delinsGCCAGC
XM_024447439.1:c.495+82_495+87delinsGCCAGC	XP_024303207.1:n.495+82_495+87delinsGCCAGC
XM_024447440.1:c.336+82_336+87delinsGCCAGC	XP_024303208.1:n.336+82_336+87delinsGCCAGC
NM_001318122.2:c.564+82_564+87delinsGCCAGC	NP_001305051.1:n.564+82_564+87delinsGCCAGC
NM_000476.3:c.516+82_516+87delinsGCCAGC MANE Select	NP_000467.1:n.516+82_516+87delinsGCCAGC
NR_174625.1:n.3835+82_3835+87delinsGCCAGC
NR_174626.1:n.3678+82_3678+87delinsGCCAGC
NR_174627.1:n.3715+82_3715+87delinsGCCAGC
NR_174628.1:n.3093+82_3093+87delinsGCCAGC
NR_174629.1:n.3038+82_3038+87delinsGCCAGC
NR_174630.1:n.3074+82_3074+87delinsGCCAGC
NR_174631.1:n.3019+82_3019+87delinsGCCAGC
NR_174632.1:n.3108+82_3108+87delinsGCCAGC