Canonical Allele Identifier: CA2797399281
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109590949_109590950insACT , CM000674.2:g.109590949_109590950insACT GRCh38
NC_000012.11:g.110028754_110028755insACT , CM000674.1:g.110028754_110028755insACT GRCh37
NC_000012.10:g.108513137_108513138insACT NCBI36
NG_007702.1:g.22255_22256insACT , LRG_156:g.22255_22256insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-76+88_-76+89insACT ENSP00000439134.1:n.-76+88_-76+89insACT
ENST00000546277.6:c.768+88_768+89insACT ENSP00000438153.2:n.768+88_768+89insACT
ENST00000636529.2:n.407+88_407+89insACT
ENST00000697195.1:c.*532+88_*532+89insACT ENSP00000513181.1:n.*532+88_*532+89insACT
ENST00000697196.1:c.856+88_856+89insACT ENSP00000513182.1:n.856+88_856+89insACT
ENST00000697197.1:n.2506_2507insACT
ENST00000228510.8:c.768+88_768+89insACT MANE Select ENSP00000228510.3:n.768+88_768+89insACT
ENST00000636529.1:c.393+88_393+89insACT
ENST00000636996.1:c.616+88_616+89insACT
ENST00000228510.7:c.768+88_768+89insACT ENSP00000228510.3:n.768+88_768+89insACT
ENST00000392727.7:c.612+88_612+89insACT ENSP00000376487.3:n.612+88_612+89insACT
ENST00000447878.6:c.*215+88_*215+89insACT ENSP00000415555.2:n.*215+88_*215+89insACT
ENST00000537237.5:c.*442-292_*442-291insACT ENSP00000445382.1:n.*442-292_*442-291insACT
ENST00000539575.4:c.768+88_768+89insACT ENSP00000443551.2:n.768+88_768+89insACT
ENST00000539696.5:c.-76+88_-76+89insACT ENSP00000439134.1:n.-76+88_-76+89insACT
ENST00000540353.1:n.3001+88_3001+89insACT
ENST00000625889.2:c.612+88_612+89insACT ENSP00000486846.1:n.612+88_612+89insACT
ENST00000629016.2:c.*215+88_*215+89insACT ENSP00000486804.1:n.*215+88_*215+89insACT
NM_000431.3:c.768+88_768+89insACT NP_000422.1:n.768+88_768+89insACT
NM_001114185.2:c.768+88_768+89insACT NP_001107657.1:n.768+88_768+89insACT
NM_001301182.1:c.612+88_612+89insACT NP_001288111.1:n.612+88_612+89insACT
XM_011538372.1:c.768+88_768+89insACT XP_011536674.1:n.768+88_768+89insACT
XM_017019313.2:c.612+88_612+89insACT XP_016874802.1:n.612+88_612+89insACT
XM_017019314.1:c.768+88_768+89insACT XP_016874803.1:n.768+88_768+89insACT
XM_024448982.1:c.768+88_768+89insACT XP_024304750.1:n.768+88_768+89insACT
NM_000431.4:c.768+88_768+89insACT MANE Select NP_000422.1:n.768+88_768+89insACT
NM_001114185.3:c.768+88_768+89insACT NP_001107657.1:n.768+88_768+89insACT
NM_001301182.2:c.612+88_612+89insACT NP_001288111.1:n.612+88_612+89insACT