Canonical Allele Identifier: CA149830
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 88837
ClinVar RCV Id: RCV000083842
dbSNP Id: rs104895323

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109581444dup , CM000674.2:g.109581444dup GRCh38
NC_000012.11:g.110019249dup , CM000674.1:g.110019249dup GRCh37
NC_000012.10:g.108503632dup NCBI36
NG_007702.1:g.12750dup , LRG_156:g.12750dup

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-92+7571dup ENSP00000439134.1:n.-92+7571dup
ENST00000546277.6:c.421dup ENSP00000438153.2:p.Ala141GlyfsTer?
ENST00000636529.2:n.79-4578dup
ENST00000697195.1:c.*185dup ENSP00000513181.1:n.*185dup
ENST00000697196.1:c.421dup ENSP00000513182.1:p.Ala141GlyfsTer?
ENST00000228510.8:c.421dup MANE Select ENSP00000228510.3:p.Ala141GlyfsTer?
ENST00000636529.1:c.65-4578dup
ENST00000636996.1:c.269dup
ENST00000228510.7:c.421dup ENSP00000228510.3:p.Ala141GlyfsTer?
ENST00000392727.7:c.371+1498dup ENSP00000376487.3:n.371+1498dup
ENST00000447878.6:c.227-4578dup ENSP00000415555.2:n.227-4578dup
ENST00000535044.1:n.472-4578dup
ENST00000537237.5:c.*185dup ENSP00000445382.1:n.*185dup
ENST00000539335.5:c.421dup ENSP00000440379.1:p.Ala141GlyfsTer?
ENST00000539575.4:c.421dup ENSP00000443551.2:p.Ala141GlyfsTer?
ENST00000539696.5:c.-92+7571dup ENSP00000439134.1:n.-92+7571dup
ENST00000545774.5:c.227-4578dup ENSP00000443978.1:n.227-4578dup
ENST00000546277.5:c.421dup ENSP00000438153.1:p.Ala141GlyfsTer?
ENST00000625889.2:c.371+1498dup ENSP00000486846.1:n.371+1498dup
ENST00000629016.2:c.227-4578dup ENSP00000486804.1:n.227-4578dup
NM_000431.3:c.421dup NP_000422.1:p.Ala141GlyfsTer?
NM_001114185.2:c.421dup NP_001107657.1:p.Ala141GlyfsTer?
NM_001301182.1:c.371+1498dup NP_001288111.1:n.371+1498dup
XM_011538372.1:c.421dup XP_011536674.1:p.Ala141GlyfsTer?
XM_017019313.2:c.371+1498dup XP_016874802.1:n.371+1498dup
XM_017019314.1:c.421dup XP_016874803.1:p.Ala141GlyfsTer?
XM_024448982.1:c.421dup XP_024304750.1:p.Ala141GlyfsTer?
NM_000431.4:c.421dup MANE Select NP_000422.1:p.Ala141GlyfsTer?
NM_001114185.3:c.421dup NP_001107657.1:p.Ala141GlyfsTer?
NM_001301182.2:c.371+1498dup NP_001288111.1:n.371+1498dup