Canonical Allele Identifier: CA481713633

Gene: MVK

Linked Data

• ClinVar Variation Id: 2931188
• ClinVar RCV Id: RCV003782450
• dbSNP Id: rs104895373
• gnomAD v3: 12-109581434-GC-G
• gnomAD v4: 12-109581434-GC-G
• COSMIC: COSM1241457
• MyVariant Identifiers: chr12:g.110019240del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581440del , CM000674.2:g.109581440del	GRCh38
NC_000012.11:g.110019245del , CM000674.1:g.110019245del	GRCh37
NC_000012.10:g.108503628del	NCBI36
NG_007702.1:g.12746del , LRG_156:g.12746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+7567del	ENSP00000439134.1:n.-92+7567del
ENST00000546277.6:c.417del	ENSP00000438153.2:p.Ala141ArgfsTer18
ENST00000636529.2:n.79-4582del
ENST00000697195.1:c.*181del	ENSP00000513181.1:n.*181del
ENST00000697196.1:c.417del	ENSP00000513182.1:p.Ala141ArgfsTer18
ENST00000228510.8:c.417del MANE Select	ENSP00000228510.3:p.Ala141ArgfsTer18
ENST00000636529.1:c.65-4582del
ENST00000636996.1:c.265del
ENST00000228510.7:c.417del	ENSP00000228510.3:p.Ala141ArgfsTer18
ENST00000392727.7:c.371+1494del	ENSP00000376487.3:n.371+1494del
ENST00000447878.6:c.227-4582del	ENSP00000415555.2:n.227-4582del
ENST00000535044.1:n.472-4582del
ENST00000537237.5:c.*181del	ENSP00000445382.1:n.*181del
ENST00000539335.5:c.417del	ENSP00000440379.1:p.Ala141ArgfsTer18
ENST00000539575.4:c.417del	ENSP00000443551.2:p.Ala141ArgfsTer18
ENST00000539696.5:c.-92+7567del	ENSP00000439134.1:n.-92+7567del
ENST00000545774.5:c.227-4582del	ENSP00000443978.1:n.227-4582del
ENST00000546277.5:c.417del	ENSP00000438153.1:p.Ala141ArgfsTer18
ENST00000625889.2:c.371+1494del	ENSP00000486846.1:n.371+1494del
ENST00000629016.2:c.227-4582del	ENSP00000486804.1:n.227-4582del
NM_000431.3:c.417del	NP_000422.1:p.Ala141ArgfsTer18
NM_001114185.2:c.417del	NP_001107657.1:p.Ala141ArgfsTer18
NM_001301182.1:c.371+1494del	NP_001288111.1:n.371+1494del
XM_011538372.1:c.417del	XP_011536674.1:p.Ala141ArgfsTer18
XM_017019313.2:c.371+1494del	XP_016874802.1:n.371+1494del
XM_017019314.1:c.417del	XP_016874803.1:p.Ala141ArgfsTer18
XM_024448982.1:c.417del	XP_024304750.1:p.Ala141ArgfsTer18
NM_000431.4:c.417del MANE Select	NP_000422.1:p.Ala141ArgfsTer18
NM_001114185.3:c.417del	NP_001107657.1:p.Ala141ArgfsTer18
NM_001301182.2:c.371+1494del	NP_001288111.1:n.371+1494del