Canonical Allele Identifier: CA2620818701

Gene: MVK

Linked Data

• gnomAD v4: 12-109595137-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595138_109595139del , CM000674.2:g.109595138_109595139del	GRCh38
NC_000012.11:g.110032943_110032944del , CM000674.1:g.110032943_110032944del	GRCh37
NC_000012.10:g.108517326_108517327del	NCBI36
NG_007702.1:g.26444_26445del , LRG_156:g.26444_26445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.153_154del	ENSP00000439134.1:p.Gly52ArgfsTer?
ENST00000546277.6:c.996_997del	ENSP00000438153.2:p.Gly333ArgfsTer?
ENST00000636529.2:n.635_636del
ENST00000697195.1:c.*760_*761del	ENSP00000513181.1:n.*760_*761del
ENST00000697196.1:c.*169_*170del	ENSP00000513182.1:n.*169_*170del
ENST00000697197.1:n.3025_3026del
ENST00000697198.1:n.1380_1381del
ENST00000228510.8:c.996_997del MANE Select	ENSP00000228510.3:p.Gly333ArgfsTer?
ENST00000636529.1:c.621_622del
ENST00000636996.1:c.844_845del
ENST00000228510.7:c.996_997del	ENSP00000228510.3:p.Gly333ArgfsTer?
ENST00000392727.7:c.840_841del	ENSP00000376487.3:p.Gly281ArgfsTer?
ENST00000447878.6:c.*443_*444del	ENSP00000415555.2:n.*443_*444del
ENST00000537237.5:c.*669_*670del	ENSP00000445382.1:n.*669_*670del
ENST00000539575.4:c.996_997del	ENSP00000443551.2:p.Gly333ArgfsTer?
ENST00000539696.5:c.153_154del	ENSP00000439134.1:p.Gly52ArgfsTer?
ENST00000540353.1:n.3229_3230del
ENST00000625889.2:c.840_841del	ENSP00000486846.1:p.Gly281ArgfsTer?
ENST00000629016.2:c.*443_*444del	ENSP00000486804.1:n.*443_*444del
NM_000431.3:c.996_997del	NP_000422.1:p.Gly333ArgfsTer?
NM_001114185.2:c.996_997del	NP_001107657.1:p.Gly333ArgfsTer?
NM_001301182.1:c.840_841del	NP_001288111.1:p.Gly281ArgfsTer?
XM_011538372.1:c.996_997del	XP_011536674.1:p.Gly333ArgfsTer?
XM_017019313.2:c.840_841del	XP_016874802.1:p.Gly281ArgfsTer?
XM_017019314.1:c.996_997del	XP_016874803.1:p.Gly333ArgfsTer?
NM_000431.4:c.996_997del MANE Select	NP_000422.1:p.Gly333ArgfsTer?
NM_001114185.3:c.996_997del	NP_001107657.1:p.Gly333ArgfsTer?
NM_001301182.2:c.840_841del	NP_001288111.1:p.Gly281ArgfsTer?