Canonical Allele Identifier: CA2062472495
Gene: MVK HGNC NCBI

Linked Data

dbSNP Id: rs1885850629

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109594966_109594976del , CM000674.2:g.109594966_109594976del GRCh38
NC_000012.11:g.110032771_110032781del , CM000674.1:g.110032771_110032781del GRCh37
NC_000012.10:g.108517154_108517164del NCBI36
NG_007702.1:g.26272_26282del , LRG_156:g.26272_26282del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.43-62_43-52del ENSP00000439134.1:n.43-62_43-52del
ENST00000546277.6:c.886-62_886-52del ENSP00000438153.2:n.886-62_886-52del
ENST00000636529.2:n.525-62_525-52del
ENST00000697195.1:c.*650-62_*650-52del ENSP00000513181.1:n.*650-62_*650-52del
ENST00000697196.1:c.*59-62_*59-52del ENSP00000513182.1:n.*59-62_*59-52del
ENST00000697197.1:n.2915-62_2915-52del
ENST00000697198.1:n.1208_1218del
ENST00000228510.8:c.886-62_886-52del MANE Select ENSP00000228510.3:n.886-62_886-52del
ENST00000636529.1:c.511-62_511-52del
ENST00000636996.1:c.734-62_734-52del
ENST00000228510.7:c.886-62_886-52del ENSP00000228510.3:n.886-62_886-52del
ENST00000392727.7:c.730-62_730-52del ENSP00000376487.3:n.730-62_730-52del
ENST00000447878.6:c.*333-62_*333-52del ENSP00000415555.2:n.*333-62_*333-52del
ENST00000537237.5:c.*559-62_*559-52del ENSP00000445382.1:n.*559-62_*559-52del
ENST00000539575.4:c.886-62_886-52del ENSP00000443551.2:n.886-62_886-52del
ENST00000539696.5:c.43-62_43-52del ENSP00000439134.1:n.43-62_43-52del
ENST00000540353.1:n.3119-62_3119-52del
ENST00000625889.2:c.730-62_730-52del ENSP00000486846.1:n.730-62_730-52del
ENST00000629016.2:c.*333-62_*333-52del ENSP00000486804.1:n.*333-62_*333-52del
NM_000431.3:c.886-62_886-52del NP_000422.1:n.886-62_886-52del
NM_001114185.2:c.886-62_886-52del NP_001107657.1:n.886-62_886-52del
NM_001301182.1:c.730-62_730-52del NP_001288111.1:n.730-62_730-52del
XM_011538372.1:c.886-62_886-52del XP_011536674.1:n.886-62_886-52del
XM_017019313.2:c.730-62_730-52del XP_016874802.1:n.730-62_730-52del
XM_017019314.1:c.886-62_886-52del XP_016874803.1:n.886-62_886-52del
NM_000431.4:c.886-62_886-52del MANE Select NP_000422.1:n.886-62_886-52del
NM_001114185.3:c.886-62_886-52del NP_001107657.1:n.886-62_886-52del
NM_001301182.2:c.730-62_730-52del NP_001288111.1:n.730-62_730-52del