Canonical Allele Identifier: CA2740092600

Gene: MVK

Linked Data

• ClinVar Variation Id: 2953001
• ClinVar RCV Id: RCV003818135

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581409_109581445del , CM000674.2:g.109581409_109581445del	GRCh38
NC_000012.11:g.110019214_110019250del , CM000674.1:g.110019214_110019250del	GRCh37
NC_000012.10:g.108503597_108503633del	NCBI36
NG_007702.1:g.12715_12751del , LRG_156:g.12715_12751del

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+7536_-92+7572del	ENSP00000439134.1:n.-92+7536_-92+7572del
ENST00000546277.6:c.386_422del	ENSP00000438153.2:p.Leu129ArgfsTer18
ENST00000636529.2:n.79-4613_79-4577del
ENST00000697195.1:c.*150_*186del	ENSP00000513181.1:n.*150_*186del
ENST00000697196.1:c.386_422del	ENSP00000513182.1:p.Leu129ArgfsTer18
ENST00000228510.8:c.386_422del MANE Select	ENSP00000228510.3:p.Leu129ArgfsTer18
ENST00000636529.1:c.65-4613_65-4577del
ENST00000636996.1:c.234_270del
ENST00000228510.7:c.386_422del	ENSP00000228510.3:p.Leu129ArgfsTer18
ENST00000392727.7:c.371+1463_371+1499del	ENSP00000376487.3:n.371+1463_371+1499del
ENST00000447878.6:c.227-4613_227-4577del	ENSP00000415555.2:n.227-4613_227-4577del
ENST00000535044.1:n.472-4613_472-4577del
ENST00000537237.5:c.*150_*186del	ENSP00000445382.1:n.*150_*186del
ENST00000539335.5:c.386_422del	ENSP00000440379.1:p.Leu129ArgfsTer18
ENST00000539575.4:c.386_422del	ENSP00000443551.2:p.Leu129ArgfsTer18
ENST00000539696.5:c.-92+7536_-92+7572del	ENSP00000439134.1:n.-92+7536_-92+7572del
ENST00000545774.5:c.227-4613_227-4577del	ENSP00000443978.1:n.227-4613_227-4577del
ENST00000546277.5:c.386_422del	ENSP00000438153.1:p.Leu129ArgfsTer18
ENST00000625889.2:c.371+1463_371+1499del	ENSP00000486846.1:n.371+1463_371+1499del
ENST00000629016.2:c.227-4613_227-4577del	ENSP00000486804.1:n.227-4613_227-4577del
NM_000431.3:c.386_422del	NP_000422.1:p.Leu129ArgfsTer18
NM_001114185.2:c.386_422del	NP_001107657.1:p.Leu129ArgfsTer18
NM_001301182.1:c.371+1463_371+1499del	NP_001288111.1:n.371+1463_371+1499del
XM_011538372.1:c.386_422del	XP_011536674.1:p.Leu129ArgfsTer18
XM_017019313.2:c.371+1463_371+1499del	XP_016874802.1:n.371+1463_371+1499del
XM_017019314.1:c.386_422del	XP_016874803.1:p.Leu129ArgfsTer18
XM_024448982.1:c.386_422del	XP_024304750.1:p.Leu129ArgfsTer18
NM_000431.4:c.386_422del MANE Select	NP_000422.1:p.Leu129ArgfsTer18
NM_001114185.3:c.386_422del	NP_001107657.1:p.Leu129ArgfsTer18
NM_001301182.2:c.371+1463_371+1499del	NP_001288111.1:n.371+1463_371+1499del