Canonical Allele Identifier: CA149777
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 97565
ClinVar RCV Id: RCV000083817
dbSNP Id: rs104895372

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109596483_109596486del , CM000674.2:g.109596483_109596486del GRCh38
NC_000012.11:g.110034288_110034291del , CM000674.1:g.110034288_110034291del GRCh37
NC_000012.10:g.108518671_108518674del NCBI36
NG_007702.1:g.27789_27792del , LRG_156:g.27789_27792del

Transcript Alleles

HGVS Amino-acid change
ENST00000228510.8:c.1097_1100del MANE Select ENSP00000228510.3:p.Asp366AlafsTer?
ENST00000636529.1:n.722_725del
ENST00000636996.1:n.945_948del
ENST00000228510.7:c.1097_1100del ENSP00000228510.3:p.Asp366AlafsTer?
ENST00000392727.7:c.941_944del ENSP00000376487.3:p.Asp314AlafsTer?
ENST00000447878.6:c.*544_*547del ENSP00000415555.2:p.=
ENST00000537237.5:c.*770_*773del ENSP00000445382.1:p.=
ENST00000539575.4:c.1097_1100del ENSP00000443551.2:p.Asp366AlafsTer?
ENST00000539696.5:c.254_257del ENSP00000439134.1:p.Asp85AlafsTer?
ENST00000540353.1:n.3330_3333del
ENST00000625889.2:c.941_944del ENSP00000486846.1:p.Asp314AlafsTer?
ENST00000629016.2:c.*544_*547del ENSP00000486804.1:p.=
NM_000431.3:c.1097_1100del NP_000422.1:p.Asp366AlafsTer?
NM_001114185.2:c.1097_1100del NP_001107657.1:p.Asp366AlafsTer?
NM_001301182.1:c.941_944del NP_001288111.1:p.Asp314AlafsTer?
XM_011538372.1:c.1097_1100del XP_011536674.1:p.Asp366AlafsTer?
XM_017019313.2:c.941_944del XP_016874802.1:p.Asp314AlafsTer?
XM_017019314.1:c.1097_1100del XP_016874803.1:p.Asp366AlafsTer?
NM_000431.4:c.1097_1100del MANE Select NP_000422.1:p.Asp366AlafsTer?
NM_001114185.3:c.1097_1100del NP_001107657.1:p.Asp366AlafsTer?
NM_001301182.2:c.941_944del NP_001288111.1:p.Asp314AlafsTer?