Canonical Allele Identifier: CA2797413900

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586155_109586156insACA , CM000674.2:g.109586155_109586156insACA	GRCh38
NC_000012.11:g.110023960_110023961insACA , CM000674.1:g.110023960_110023961insACA	GRCh37
NC_000012.10:g.108508343_108508344insACA	NCBI36
NG_007702.1:g.17461_17462insACA , LRG_156:g.17461_17462insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4691_-91-4690insACA	ENSP00000439134.1:n.-91-4691_-91-4690insACA
ENST00000546277.6:c.631+30_631+31insACA	ENSP00000438153.2:n.631+30_631+31insACA
ENST00000636529.2:n.182+30_182+31insACA
ENST00000697195.1:c.*395+30_*395+31insACA	ENSP00000513181.1:n.*395+30_*395+31insACA
ENST00000697196.1:c.631+30_631+31insACA	ENSP00000513182.1:n.631+30_631+31insACA
ENST00000228510.8:c.631+30_631+31insACA MANE Select	ENSP00000228510.3:n.631+30_631+31insACA
ENST00000636529.1:c.168+30_168+31insACA
ENST00000636996.1:c.479+30_479+31insACA
ENST00000228510.7:c.631+30_631+31insACA	ENSP00000228510.3:n.631+30_631+31insACA
ENST00000392727.7:c.475+30_475+31insACA	ENSP00000376487.3:n.475+30_475+31insACA
ENST00000447878.6:c.*78+30_*78+31insACA	ENSP00000415555.2:n.*78+30_*78+31insACA
ENST00000537237.5:c.*395+30_*395+31insACA	ENSP00000445382.1:n.*395+30_*395+31insACA
ENST00000539575.4:c.631+30_631+31insACA	ENSP00000443551.2:n.631+30_631+31insACA
ENST00000539696.5:c.-91-4691_-91-4690insACA	ENSP00000439134.1:n.-91-4691_-91-4690insACA
ENST00000545516.1:n.176+30_176+31insACA
ENST00000545774.5:c.*78+30_*78+31insACA	ENSP00000443978.1:n.*78+30_*78+31insACA
ENST00000625889.2:c.475+30_475+31insACA	ENSP00000486846.1:n.475+30_475+31insACA
ENST00000629016.2:c.*78+30_*78+31insACA	ENSP00000486804.1:n.*78+30_*78+31insACA
NM_000431.3:c.631+30_631+31insACA	NP_000422.1:n.631+30_631+31insACA
NM_001114185.2:c.631+30_631+31insACA	NP_001107657.1:n.631+30_631+31insACA
NM_001301182.1:c.475+30_475+31insACA	NP_001288111.1:n.475+30_475+31insACA
XM_011538372.1:c.631+30_631+31insACA	XP_011536674.1:n.631+30_631+31insACA
XM_017019313.2:c.475+30_475+31insACA	XP_016874802.1:n.475+30_475+31insACA
XM_017019314.1:c.631+30_631+31insACA	XP_016874803.1:n.631+30_631+31insACA
XM_024448982.1:c.631+30_631+31insACA	XP_024304750.1:n.631+30_631+31insACA
NM_000431.4:c.631+30_631+31insACA MANE Select	NP_000422.1:n.631+30_631+31insACA
NM_001114185.3:c.631+30_631+31insACA	NP_001107657.1:n.631+30_631+31insACA
NM_001301182.2:c.475+30_475+31insACA	NP_001288111.1:n.475+30_475+31insACA