Canonical Allele Identifier: CA2580085785

Gene: MVK

Linked Data

• ClinVar Variation Id: 2024803
• ClinVar RCV Id: RCV002847968

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596476_109596477del , CM000674.2:g.109596476_109596477del	GRCh38
NC_000012.11:g.110034281_110034282del , CM000674.1:g.110034281_110034282del	GRCh37
NC_000012.10:g.108518664_108518665del	NCBI36
NG_007702.1:g.27782_27783del , LRG_156:g.27782_27783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.247_248del	ENSP00000439134.1:p.Gly83LeufsTer2
ENST00000546277.6:c.1090_1091del	ENSP00000438153.2:p.Gly364LeufsTer2
ENST00000636529.2:n.729_730del
ENST00000697195.1:c.*854_*855del	ENSP00000513181.1:n.*854_*855del
ENST00000697196.1:c.*263_*264del	ENSP00000513182.1:n.*263_*264del
ENST00000697197.1:n.3119_3120del
ENST00000697198.1:n.1474_1475del
ENST00000228510.8:c.1090_1091del MANE Select	ENSP00000228510.3:p.Gly364LeufsTer2
ENST00000636529.1:c.715_716del
ENST00000636996.1:c.938_939del
ENST00000228510.7:c.1090_1091del	ENSP00000228510.3:p.Gly364LeufsTer2
ENST00000392727.7:c.934_935del	ENSP00000376487.3:p.Gly312LeufsTer2
ENST00000447878.6:c.*537_*538del	ENSP00000415555.2:n.*537_*538del
ENST00000537237.5:c.*763_*764del	ENSP00000445382.1:n.*763_*764del
ENST00000539575.4:c.1090_1091del	ENSP00000443551.2:p.Gly364LeufsTer2
ENST00000539696.5:c.247_248del	ENSP00000439134.1:p.Gly83LeufsTer2
ENST00000540353.1:n.3323_3324del
ENST00000625889.2:c.934_935del	ENSP00000486846.1:p.Gly312LeufsTer2
ENST00000629016.2:c.*537_*538del	ENSP00000486804.1:n.*537_*538del
NM_000431.3:c.1090_1091del	NP_000422.1:p.Gly364LeufsTer2
NM_001114185.2:c.1090_1091del	NP_001107657.1:p.Gly364LeufsTer2
NM_001301182.1:c.934_935del	NP_001288111.1:p.Gly312LeufsTer2
XM_011538372.1:c.1090_1091del	XP_011536674.1:p.Gly364LeufsTer2
XM_017019313.2:c.934_935del	XP_016874802.1:p.Gly312LeufsTer2
XM_017019314.1:c.1090_1091del	XP_016874803.1:p.Gly364LeufsTer2
NM_000431.4:c.1090_1091del MANE Select	NP_000422.1:p.Gly364LeufsTer2
NM_001114185.3:c.1090_1091del	NP_001107657.1:p.Gly364LeufsTer2
NM_001301182.2:c.934_935del	NP_001288111.1:p.Gly312LeufsTer2