Canonical Allele Identifier: CA2841815447

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591226dup , CM000674.2:g.109591226dup	GRCh38
NC_000012.11:g.110029031dup , CM000674.1:g.110029031dup	GRCh37
NC_000012.10:g.108513414dup	NCBI36
NG_007702.1:g.22532dup , LRG_156:g.22532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-75-15dup	ENSP00000439134.1:n.-75-15dup
ENST00000546277.6:c.769-15dup	ENSP00000438153.2:n.769-15dup
ENST00000636529.2:n.408-15dup
ENST00000697195.1:c.*533-15dup	ENSP00000513181.1:n.*533-15dup
ENST00000697196.1:c.857-15dup	ENSP00000513182.1:n.857-15dup
ENST00000697197.1:n.2783dup
ENST00000228510.8:c.769-15dup MANE Select	ENSP00000228510.3:n.769-15dup
ENST00000636529.1:c.394-15dup
ENST00000636996.1:c.617-15dup
ENST00000228510.7:c.769-15dup	ENSP00000228510.3:n.769-15dup
ENST00000392727.7:c.613-15dup	ENSP00000376487.3:n.613-15dup
ENST00000447878.6:c.*216-15dup	ENSP00000415555.2:n.*216-15dup
ENST00000537237.5:c.*442-15dup	ENSP00000445382.1:n.*442-15dup
ENST00000539575.4:c.769-15dup	ENSP00000443551.2:n.769-15dup
ENST00000539696.5:c.-75-15dup	ENSP00000439134.1:n.-75-15dup
ENST00000540353.1:n.3002-15dup
ENST00000625889.2:c.613-15dup	ENSP00000486846.1:n.613-15dup
ENST00000629016.2:c.*216-15dup	ENSP00000486804.1:n.*216-15dup
NM_000431.3:c.769-15dup	NP_000422.1:n.769-15dup
NM_001114185.2:c.769-15dup	NP_001107657.1:n.769-15dup
NM_001301182.1:c.613-15dup	NP_001288111.1:n.613-15dup
XM_011538372.1:c.769-15dup	XP_011536674.1:n.769-15dup
XM_017019313.2:c.613-15dup	XP_016874802.1:n.613-15dup
XM_017019314.1:c.769-15dup	XP_016874803.1:n.769-15dup
XM_024448982.1:c.769-15dup	XP_024304750.1:n.769-15dup
NM_000431.4:c.769-15dup MANE Select	NP_000422.1:n.769-15dup
NM_001114185.3:c.769-15dup	NP_001107657.1:n.769-15dup
NM_001301182.2:c.613-15dup	NP_001288111.1:n.613-15dup