Canonical Allele Identifier: CA2062444294
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109591256_109591257delinsGC , CM000674.2:g.109591256_109591257delinsGC GRCh38
NC_000012.11:g.110029061_110029062delinsGC , CM000674.1:g.110029061_110029062delinsGC GRCh37
NC_000012.10:g.108513444_108513445delinsGC NCBI36
NG_007702.1:g.22562_22563delinsGC , LRG_156:g.22562_22563delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-60_-59delinsGC ENSP00000439134.1:n.-60_-59delinsGC
ENST00000546277.6:c.784_785delinsGC ENSP00000438153.2:p.Ala262=
ENST00000636529.2:n.423_424delinsGC
ENST00000697195.1:c.*548_*549delinsGC ENSP00000513181.1:n.*548_*549delinsGC
ENST00000697196.1:c.872_873delinsGC ENSP00000513182.1:p.Gly291=
ENST00000697197.1:n.2813_2814delinsGC
ENST00000228510.8:c.784_785delinsGC MANE Select ENSP00000228510.3:p.Ala262=
ENST00000636529.1:c.409_410delinsGC
ENST00000636996.1:c.632_633delinsGC
ENST00000228510.7:c.784_785delinsGC ENSP00000228510.3:p.Ala262=
ENST00000392727.7:c.628_629delinsGC ENSP00000376487.3:p.Ala210=
ENST00000447878.6:c.*231_*232delinsGC ENSP00000415555.2:n.*231_*232delinsGC
ENST00000537237.5:c.*457_*458delinsGC ENSP00000445382.1:n.*457_*458delinsGC
ENST00000539575.4:c.784_785delinsGC ENSP00000443551.2:p.Ala262=
ENST00000539696.5:c.-60_-59delinsGC ENSP00000439134.1:n.-60_-59delinsGC
ENST00000540353.1:n.3017_3018delinsGC
ENST00000625889.2:c.628_629delinsGC ENSP00000486846.1:p.Ala210=
ENST00000629016.2:c.*231_*232delinsGC ENSP00000486804.1:n.*231_*232delinsGC
NM_000431.3:c.784_785delinsGC NP_000422.1:p.Ala262=
NM_001114185.2:c.784_785delinsGC NP_001107657.1:p.Ala262=
NM_001301182.1:c.628_629delinsGC NP_001288111.1:p.Ala210=
XM_011538372.1:c.784_785delinsGC XP_011536674.1:p.Ala262=
XM_017019313.2:c.628_629delinsGC XP_016874802.1:p.Ala210=
XM_017019314.1:c.784_785delinsGC XP_016874803.1:p.Ala262=
XM_024448982.1:c.784_785delinsGC XP_024304750.1:p.Ala262=
NM_000431.4:c.784_785delinsGC MANE Select NP_000422.1:p.Ala262=
NM_001114185.3:c.784_785delinsGC NP_001107657.1:p.Ala262=
NM_001301182.2:c.628_629delinsGC NP_001288111.1:p.Ala210=