Canonical Allele Identifier: CA2620818904
Gene: MVK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109596478_109596504dup , CM000674.2:g.109596478_109596504dup GRCh38
NC_000012.11:g.110034283_110034309dup , CM000674.1:g.110034283_110034309dup GRCh37
NC_000012.10:g.108518666_108518692dup NCBI36
NG_007702.1:g.27784_27810dup , LRG_156:g.27784_27810dup

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.249_275dup ENSP00000439134.1:p.Gly92_Ala93insPheAspC...
ENST00000546277.6:c.1092_1118dup ENSP00000438153.2:p.Gly373_Ala374insPheAs...
ENST00000636529.2:n.731_757dup
ENST00000697195.1:c.*856_*882dup ENSP00000513181.1:n.*856_*882dup
ENST00000697196.1:c.*265_*291dup ENSP00000513182.1:n.*265_*291dup
ENST00000697197.1:n.3121_3147dup
ENST00000697198.1:n.1476_1502dup
ENST00000228510.8:c.1092_1118dup MANE Select ENSP00000228510.3:p.Gly373_Ala374insPheAs...
ENST00000636529.1:c.717_743dup
ENST00000636996.1:c.940_966dup
ENST00000228510.7:c.1092_1118dup ENSP00000228510.3:p.Gly373_Ala374insPheAs...
ENST00000392727.7:c.936_962dup ENSP00000376487.3:p.Gly321_Ala322insPheAs...
ENST00000447878.6:c.*539_*565dup ENSP00000415555.2:n.*539_*565dup
ENST00000537237.5:c.*765_*791dup ENSP00000445382.1:n.*765_*791dup
ENST00000539575.4:c.1092_1118dup ENSP00000443551.2:p.Gly373_Ala374insPheAs...
ENST00000539696.5:c.249_275dup ENSP00000439134.1:p.Gly92_Ala93insPheAspC...
ENST00000540353.1:n.3325_3351dup
ENST00000625889.2:c.936_962dup ENSP00000486846.1:p.Gly321_Ala322insPheAs...
ENST00000629016.2:c.*539_*565dup ENSP00000486804.1:n.*539_*565dup
NM_000431.3:c.1092_1118dup NP_000422.1:p.Gly373_Ala374insPheAspCysLe...
NM_001114185.2:c.1092_1118dup NP_001107657.1:p.Gly373_Ala374insPheAspCy...
NM_001301182.1:c.936_962dup NP_001288111.1:p.Gly321_Ala322insPheAspCy...
XM_011538372.1:c.1092_1118dup XP_011536674.1:p.Gly373_Ala374insPheAspCy...
XM_017019313.2:c.936_962dup XP_016874802.1:p.Gly321_Ala322insPheAspCy...
XM_017019314.1:c.1092_1118dup XP_016874803.1:p.Gly373_Ala374insPheAspCy...
NM_000431.4:c.1092_1118dup MANE Select NP_000422.1:p.Gly373_Ala374insPheAspCysLe...
NM_001114185.3:c.1092_1118dup NP_001107657.1:p.Gly373_Ala374insPheAspCy...
NM_001301182.2:c.936_962dup NP_001288111.1:p.Gly321_Ala322insPheAspCy...