Canonical Allele Identifier: CA2797413905

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586176_109586177insAC , CM000674.2:g.109586176_109586177insAC	GRCh38
NC_000012.11:g.110023981_110023982insAC , CM000674.1:g.110023981_110023982insAC	GRCh37
NC_000012.10:g.108508364_108508365insAC	NCBI36
NG_007702.1:g.17482_17483insAC , LRG_156:g.17482_17483insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4670_-91-4669insAC	ENSP00000439134.1:n.-91-4670_-91-4669insAC
ENST00000546277.6:c.631+51_631+52insAC	ENSP00000438153.2:n.631+51_631+52insAC
ENST00000636529.2:n.182+51_182+52insAC
ENST00000697195.1:c.*395+51_*395+52insAC	ENSP00000513181.1:n.*395+51_*395+52insAC
ENST00000697196.1:c.631+51_631+52insAC	ENSP00000513182.1:n.631+51_631+52insAC
ENST00000228510.8:c.631+51_631+52insAC MANE Select	ENSP00000228510.3:n.631+51_631+52insAC
ENST00000636529.1:c.168+51_168+52insAC
ENST00000636996.1:c.479+51_479+52insAC
ENST00000228510.7:c.631+51_631+52insAC	ENSP00000228510.3:n.631+51_631+52insAC
ENST00000392727.7:c.475+51_475+52insAC	ENSP00000376487.3:n.475+51_475+52insAC
ENST00000447878.6:c.*78+51_*78+52insAC	ENSP00000415555.2:n.*78+51_*78+52insAC
ENST00000537237.5:c.*395+51_*395+52insAC	ENSP00000445382.1:n.*395+51_*395+52insAC
ENST00000539575.4:c.631+51_631+52insAC	ENSP00000443551.2:n.631+51_631+52insAC
ENST00000539696.5:c.-91-4670_-91-4669insAC	ENSP00000439134.1:n.-91-4670_-91-4669insAC
ENST00000545516.1:n.176+51_176+52insAC
ENST00000545774.5:c.*78+51_*78+52insAC	ENSP00000443978.1:n.*78+51_*78+52insAC
ENST00000625889.2:c.475+51_475+52insAC	ENSP00000486846.1:n.475+51_475+52insAC
ENST00000629016.2:c.*78+51_*78+52insAC	ENSP00000486804.1:n.*78+51_*78+52insAC
NM_000431.3:c.631+51_631+52insAC	NP_000422.1:n.631+51_631+52insAC
NM_001114185.2:c.631+51_631+52insAC	NP_001107657.1:n.631+51_631+52insAC
NM_001301182.1:c.475+51_475+52insAC	NP_001288111.1:n.475+51_475+52insAC
XM_011538372.1:c.631+51_631+52insAC	XP_011536674.1:n.631+51_631+52insAC
XM_017019313.2:c.475+51_475+52insAC	XP_016874802.1:n.475+51_475+52insAC
XM_017019314.1:c.631+51_631+52insAC	XP_016874803.1:n.631+51_631+52insAC
XM_024448982.1:c.631+51_631+52insAC	XP_024304750.1:n.631+51_631+52insAC
NM_000431.4:c.631+51_631+52insAC MANE Select	NP_000422.1:n.631+51_631+52insAC
NM_001114185.3:c.631+51_631+52insAC	NP_001107657.1:n.631+51_631+52insAC
NM_001301182.2:c.475+51_475+52insAC	NP_001288111.1:n.475+51_475+52insAC