Canonical Allele Identifier: CA2062473099
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109596480_109596484delinsTTGAC , CM000674.2:g.109596480_109596484delinsTTGAC GRCh38
NC_000012.11:g.110034285_110034289delinsTTGAC , CM000674.1:g.110034285_110034289delinsTTGAC GRCh37
NC_000012.10:g.108518668_108518672delinsTTGAC NCBI36
NG_007702.1:g.27786_27790delinsTTGAC , LRG_156:g.27786_27790delinsTTGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.251_255delinsTTGAC ENSP00000439134.1:p.Phe84=
ENST00000546277.6:c.1094_1098delinsTTGAC ENSP00000438153.2:p.Phe365=
ENST00000636529.2:n.733_737delinsTTGAC
ENST00000697195.1:c.*858_*862delinsTTGAC ENSP00000513181.1:n.*858_*862delinsTTGAC
ENST00000697196.1:c.*267_*271delinsTTGAC ENSP00000513182.1:n.*267_*271delinsTTGAC
ENST00000697197.1:n.3123_3127delinsTTGAC
ENST00000697198.1:n.1478_1482delinsTTGAC
ENST00000228510.8:c.1094_1098delinsTTGAC MANE Select ENSP00000228510.3:p.Phe365=
ENST00000636529.1:c.719_723delinsTTGAC
ENST00000636996.1:c.942_946delinsTTGAC
ENST00000228510.7:c.1094_1098delinsTTGAC ENSP00000228510.3:p.Phe365=
ENST00000392727.7:c.938_942delinsTTGAC ENSP00000376487.3:p.Phe313=
ENST00000447878.6:c.*541_*545delinsTTGAC ENSP00000415555.2:n.*541_*545delinsTTGAC
ENST00000537237.5:c.*767_*771delinsTTGAC ENSP00000445382.1:n.*767_*771delinsTTGAC
ENST00000539575.4:c.1094_1098delinsTTGAC ENSP00000443551.2:p.Phe365=
ENST00000539696.5:c.251_255delinsTTGAC ENSP00000439134.1:p.Phe84=
ENST00000540353.1:n.3327_3331delinsTTGAC
ENST00000625889.2:c.938_942delinsTTGAC ENSP00000486846.1:p.Phe313=
ENST00000629016.2:c.*541_*545delinsTTGAC ENSP00000486804.1:n.*541_*545delinsTTGAC
NM_000431.3:c.1094_1098delinsTTGAC NP_000422.1:p.Phe365=
NM_001114185.2:c.1094_1098delinsTTGAC NP_001107657.1:p.Phe365=
NM_001301182.1:c.938_942delinsTTGAC NP_001288111.1:p.Phe313=
XM_011538372.1:c.1094_1098delinsTTGAC XP_011536674.1:p.Phe365=
XM_017019313.2:c.938_942delinsTTGAC XP_016874802.1:p.Phe313=
XM_017019314.1:c.1094_1098delinsTTGAC XP_016874803.1:p.Phe365=
NM_000431.4:c.1094_1098delinsTTGAC MANE Select NP_000422.1:p.Phe365=
NM_001114185.3:c.1094_1098delinsTTGAC NP_001107657.1:p.Phe365=
NM_001301182.2:c.938_942delinsTTGAC NP_001288111.1:p.Phe313=