Canonical Allele Identifier: CA2797414396

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595118_109595119del , CM000674.2:g.109595118_109595119del	GRCh38
NC_000012.11:g.110032923_110032924del , CM000674.1:g.110032923_110032924del	GRCh37
NC_000012.10:g.108517306_108517307del	NCBI36
NG_007702.1:g.26424_26425del , LRG_156:g.26424_26425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.133_134del	ENSP00000439134.1:p.Gly45ThrfsTer?
ENST00000546277.6:c.976_977del	ENSP00000438153.2:p.Gly326ThrfsTer?
ENST00000636529.2:n.615_616del
ENST00000697195.1:c.*740_*741del	ENSP00000513181.1:n.*740_*741del
ENST00000697196.1:c.*149_*150del	ENSP00000513182.1:n.*149_*150del
ENST00000697197.1:n.3005_3006del
ENST00000697198.1:n.1360_1361del
ENST00000228510.8:c.976_977del MANE Select	ENSP00000228510.3:p.Gly326ThrfsTer?
ENST00000636529.1:c.601_602del
ENST00000636996.1:c.824_825del
ENST00000228510.7:c.976_977del	ENSP00000228510.3:p.Gly326ThrfsTer?
ENST00000392727.7:c.820_821del	ENSP00000376487.3:p.Gly274ThrfsTer?
ENST00000447878.6:c.*423_*424del	ENSP00000415555.2:n.*423_*424del
ENST00000537237.5:c.*649_*650del	ENSP00000445382.1:n.*649_*650del
ENST00000539575.4:c.976_977del	ENSP00000443551.2:p.Gly326ThrfsTer?
ENST00000539696.5:c.133_134del	ENSP00000439134.1:p.Gly45ThrfsTer?
ENST00000540353.1:n.3209_3210del
ENST00000625889.2:c.820_821del	ENSP00000486846.1:p.Gly274ThrfsTer?
ENST00000629016.2:c.*423_*424del	ENSP00000486804.1:n.*423_*424del
NM_000431.3:c.976_977del	NP_000422.1:p.Gly326ThrfsTer?
NM_001114185.2:c.976_977del	NP_001107657.1:p.Gly326ThrfsTer?
NM_001301182.1:c.820_821del	NP_001288111.1:p.Gly274ThrfsTer?
XM_011538372.1:c.976_977del	XP_011536674.1:p.Gly326ThrfsTer?
XM_017019313.2:c.820_821del	XP_016874802.1:p.Gly274ThrfsTer?
XM_017019314.1:c.976_977del	XP_016874803.1:p.Gly326ThrfsTer?
NM_000431.4:c.976_977del MANE Select	NP_000422.1:p.Gly326ThrfsTer?
NM_001114185.3:c.976_977del	NP_001107657.1:p.Gly326ThrfsTer?
NM_001301182.2:c.820_821del	NP_001288111.1:p.Gly274ThrfsTer?