Canonical Allele Identifier: CA2062438158

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586119_109586137delinsACCTGGGGTAGGTGTGGCC , CM000674.2:g.109586119_109586137delinsACCTGGGGTAGGTGTGGCC	GRCh38
NC_000012.11:g.110023924_110023942delinsACCTGGGGTAGGTGTGGCC , CM000674.1:g.110023924_110023942delinsACCTGGGGTAGGTGTGGCC	GRCh37
NC_000012.10:g.108508307_108508325delinsACCTGGGGTAGGTGTGGCC	NCBI36
NG_007702.1:g.17425_17443delinsACCTGGGGTAGGTGTGGCC , LRG_156:g.17425_17443delinsACCTGGGGTAGGTGTGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4727_-91-4709delinsACCTGGGGTAGGTGTGGCC	ENSP00000439134.1:n.-91-4727_-91-4709delinsACCTGGGGTAGGTGTGGC...
ENST00000546277.6:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
ENST00000636529.2:n.176_182+12delinsACCTGGGGTAGGTGTGGCC
ENST00000697195.1:c.*389_*395+12delinsACCTGGGGTAGGTGTGGCC
ENST00000697196.1:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
ENST00000228510.8:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
ENST00000636529.1:c.162_168+12delinsACCTGGGGTAGGTGTGGCC
ENST00000636996.1:c.473_479+12delinsACCTGGGGTAGGTGTGGCC
ENST00000228510.7:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
ENST00000392727.7:c.469_475+12delinsACCTGGGGTAGGTGTGGCC
ENST00000447878.6:c.*72_*78+12delinsACCTGGGGTAGGTGTGGCC
ENST00000537237.5:c.*389_*395+12delinsACCTGGGGTAGGTGTGGCC
ENST00000539575.4:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
ENST00000539696.5:c.-91-4727_-91-4709delinsACCTGGGGTAGGTGTGGCC	ENSP00000439134.1:n.-91-4727_-91-4709delinsACCTGGGGTAGGTGTGGC...
ENST00000545516.1:n.170_176+12delinsACCTGGGGTAGGTGTGGCC
ENST00000545774.5:c.*72_*78+12delinsACCTGGGGTAGGTGTGGCC
ENST00000625889.2:c.469_475+12delinsACCTGGGGTAGGTGTGGCC
ENST00000629016.2:c.*72_*78+12delinsACCTGGGGTAGGTGTGGCC
NM_000431.3:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
NM_001114185.2:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
NM_001301182.1:c.469_475+12delinsACCTGGGGTAGGTGTGGCC
XM_011538372.1:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
XM_017019313.2:c.469_475+12delinsACCTGGGGTAGGTGTGGCC
XM_017019314.1:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
XM_024448982.1:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
NM_000431.4:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
NM_001114185.3:c.625_631+12delinsACCTGGGGTAGGTGTGGCC
NM_001301182.2:c.469_475+12delinsACCTGGGGTAGGTGTGGCC