Canonical Allele Identifier: CA1880009259

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868211_127868212delinsGA , CM000671.2:g.127868211_127868212delinsGA	GRCh38
NC_000009.11:g.130630490_130630491delinsGA , CM000671.1:g.130630490_130630491delinsGA	GRCh37
NC_000009.10:g.129670311_129670312delinsGA	NCBI36
NG_011792.1:g.14532_14533delinsTC
NG_011792.2:g.14532_14533delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1016+109_1016+110delinsTC
ENST00000643029.1:c.*2191+109_*2191+110delinsTC	ENSP00000496586.1:n.*2191+109_*2191+110delinsTC
ENST00000643338.1:c.*2080+109_*2080+110delinsTC	ENSP00000495890.1:n.*2080+109_*2080+110delinsTC
ENST00000644144.2:c.516+109_516+110delinsTC MANE Select	ENSP00000494600.1:n.516+109_516+110delinsTC
ENST00000645007.1:c.*2440+109_*2440+110delinsTC	ENSP00000494773.1:n.*2440+109_*2440+110delinsTC
ENST00000646171.1:c.*549+109_*549+110delinsTC	ENSP00000495484.1:n.*549+109_*549+110delinsTC
ENST00000223836.10:c.564+109_564+110delinsTC	ENSP00000223836.10:n.564+109_564+110delinsTC
ENST00000373156.5:c.516+109_516+110delinsTC	ENSP00000362249.1:n.516+109_516+110delinsTC
ENST00000373176.5:c.516+109_516+110delinsTC	ENSP00000362271.1:n.516+109_516+110delinsTC
ENST00000413016.5:c.338+109_338+110delinsTC
ENST00000550143.5:c.296+109_296+110delinsTC	ENSP00000449130.1:n.296+109_296+110delinsTC
NM_000476.2:c.516+109_516+110delinsTC	NP_000467.1:n.516+109_516+110delinsTC
XM_005251786.2:c.564+109_564+110delinsTC	XP_005251843.1:n.564+109_564+110delinsTC
XM_011518348.1:c.516+109_516+110delinsTC	XP_011516650.1:n.516+109_516+110delinsTC
XM_011518349.1:c.336+109_336+110delinsTC	XP_011516651.1:n.336+109_336+110delinsTC
NM_001318121.1:c.516+109_516+110delinsTC	NP_001305050.1:n.516+109_516+110delinsTC
NM_001318122.1:c.564+109_564+110delinsTC	NP_001305051.1:n.564+109_564+110delinsTC
XM_017014428.1:c.516+109_516+110delinsTC	XP_016869917.1:n.516+109_516+110delinsTC
XM_024447439.1:c.495+109_495+110delinsTC	XP_024303207.1:n.495+109_495+110delinsTC
XM_024447440.1:c.336+109_336+110delinsTC	XP_024303208.1:n.336+109_336+110delinsTC
NM_001318122.2:c.564+109_564+110delinsTC	NP_001305051.1:n.564+109_564+110delinsTC
NM_000476.3:c.516+109_516+110delinsTC MANE Select	NP_000467.1:n.516+109_516+110delinsTC
NR_174625.1:n.3835+109_3835+110delinsTC
NR_174626.1:n.3678+109_3678+110delinsTC
NR_174627.1:n.3715+109_3715+110delinsTC
NR_174628.1:n.3093+109_3093+110delinsTC
NR_174629.1:n.3038+109_3038+110delinsTC
NR_174630.1:n.3074+109_3074+110delinsTC
NR_174631.1:n.3019+109_3019+110delinsTC
NR_174632.1:n.3108+109_3108+110delinsTC