Canonical Allele Identifier: CA2797399277
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109590947_109590948insAGA , CM000674.2:g.109590947_109590948insAGA GRCh38
NC_000012.11:g.110028752_110028753insAGA , CM000674.1:g.110028752_110028753insAGA GRCh37
NC_000012.10:g.108513135_108513136insAGA NCBI36
NG_007702.1:g.22253_22254insAGA , LRG_156:g.22253_22254insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-76+86_-76+87insAGA ENSP00000439134.1:n.-76+86_-76+87insAGA
ENST00000546277.6:c.768+86_768+87insAGA ENSP00000438153.2:n.768+86_768+87insAGA
ENST00000636529.2:n.407+86_407+87insAGA
ENST00000697195.1:c.*532+86_*532+87insAGA ENSP00000513181.1:n.*532+86_*532+87insAGA
ENST00000697196.1:c.856+86_856+87insAGA ENSP00000513182.1:n.856+86_856+87insAGA
ENST00000697197.1:n.2504_2505insAGA
ENST00000228510.8:c.768+86_768+87insAGA MANE Select ENSP00000228510.3:n.768+86_768+87insAGA
ENST00000636529.1:c.393+86_393+87insAGA
ENST00000636996.1:c.616+86_616+87insAGA
ENST00000228510.7:c.768+86_768+87insAGA ENSP00000228510.3:n.768+86_768+87insAGA
ENST00000392727.7:c.612+86_612+87insAGA ENSP00000376487.3:n.612+86_612+87insAGA
ENST00000447878.6:c.*215+86_*215+87insAGA ENSP00000415555.2:n.*215+86_*215+87insAGA
ENST00000537237.5:c.*442-294_*442-293insAGA ENSP00000445382.1:n.*442-294_*442-293insAGA
ENST00000539575.4:c.768+86_768+87insAGA ENSP00000443551.2:n.768+86_768+87insAGA
ENST00000539696.5:c.-76+86_-76+87insAGA ENSP00000439134.1:n.-76+86_-76+87insAGA
ENST00000540353.1:n.3001+86_3001+87insAGA
ENST00000625889.2:c.612+86_612+87insAGA ENSP00000486846.1:n.612+86_612+87insAGA
ENST00000629016.2:c.*215+86_*215+87insAGA ENSP00000486804.1:n.*215+86_*215+87insAGA
NM_000431.3:c.768+86_768+87insAGA NP_000422.1:n.768+86_768+87insAGA
NM_001114185.2:c.768+86_768+87insAGA NP_001107657.1:n.768+86_768+87insAGA
NM_001301182.1:c.612+86_612+87insAGA NP_001288111.1:n.612+86_612+87insAGA
XM_011538372.1:c.768+86_768+87insAGA XP_011536674.1:n.768+86_768+87insAGA
XM_017019313.2:c.612+86_612+87insAGA XP_016874802.1:n.612+86_612+87insAGA
XM_017019314.1:c.768+86_768+87insAGA XP_016874803.1:n.768+86_768+87insAGA
XM_024448982.1:c.768+86_768+87insAGA XP_024304750.1:n.768+86_768+87insAGA
NM_000431.4:c.768+86_768+87insAGA MANE Select NP_000422.1:n.768+86_768+87insAGA
NM_001114185.3:c.768+86_768+87insAGA NP_001107657.1:n.768+86_768+87insAGA
NM_001301182.2:c.612+86_612+87insAGA NP_001288111.1:n.612+86_612+87insAGA