Canonical Allele Identifier: CA2062472945

Gene: MVK

Linked Data

• dbSNP Id: rs1885902624

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596096_109596098del , CM000674.2:g.109596096_109596098del	GRCh38
NC_000012.11:g.110033901_110033903del , CM000674.1:g.110033901_110033903del	GRCh37
NC_000012.10:g.108518284_108518286del	NCBI36
NG_007702.1:g.27402_27404del , LRG_156:g.27402_27404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-330_197-328del	ENSP00000439134.1:n.197-330_197-328del
ENST00000546277.6:c.1040-330_1040-328del	ENSP00000438153.2:n.1040-330_1040-328del
ENST00000636529.2:n.679-330_679-328del
ENST00000697195.1:c.*804-330_*804-328del	ENSP00000513181.1:n.*804-330_*804-328del
ENST00000697196.1:c.*213-330_*213-328del	ENSP00000513182.1:n.*213-330_*213-328del
ENST00000697197.1:n.3069-330_3069-328del
ENST00000697198.1:n.1424-330_1424-328del
ENST00000228510.8:c.1040-330_1040-328del MANE Select	ENSP00000228510.3:n.1040-330_1040-328del
ENST00000636529.1:c.665-330_665-328del
ENST00000636996.1:c.888-330_888-328del
ENST00000228510.7:c.1040-330_1040-328del	ENSP00000228510.3:n.1040-330_1040-328del
ENST00000392727.7:c.884-330_884-328del	ENSP00000376487.3:n.884-330_884-328del
ENST00000447878.6:c.*487-330_*487-328del	ENSP00000415555.2:n.*487-330_*487-328del
ENST00000537237.5:c.*713-330_*713-328del	ENSP00000445382.1:n.*713-330_*713-328del
ENST00000539575.4:c.1040-330_1040-328del	ENSP00000443551.2:n.1040-330_1040-328del
ENST00000539696.5:c.197-330_197-328del	ENSP00000439134.1:n.197-330_197-328del
ENST00000540353.1:n.3273-330_3273-328del
ENST00000625889.2:c.884-330_884-328del	ENSP00000486846.1:n.884-330_884-328del
ENST00000629016.2:c.*487-330_*487-328del	ENSP00000486804.1:n.*487-330_*487-328del
NM_000431.3:c.1040-330_1040-328del	NP_000422.1:n.1040-330_1040-328del
NM_001114185.2:c.1040-330_1040-328del	NP_001107657.1:n.1040-330_1040-328del
NM_001301182.1:c.884-330_884-328del	NP_001288111.1:n.884-330_884-328del
XM_011538372.1:c.1040-330_1040-328del	XP_011536674.1:n.1040-330_1040-328del
XM_017019313.2:c.884-330_884-328del	XP_016874802.1:n.884-330_884-328del
XM_017019314.1:c.1040-330_1040-328del	XP_016874803.1:n.1040-330_1040-328del
NM_000431.4:c.1040-330_1040-328del MANE Select	NP_000422.1:n.1040-330_1040-328del
NM_001114185.3:c.1040-330_1040-328del	NP_001107657.1:n.1040-330_1040-328del
NM_001301182.2:c.884-330_884-328del	NP_001288111.1:n.884-330_884-328del