Canonical Allele Identifier: CA2620817906

Gene: MVK

Linked Data

• gnomAD v4: 12-109586209-T-TGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586209_109586210insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC , CM000674.2:g.109586209_109586210insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	GRCh38
NC_000012.11:g.110024014_110024015insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC , CM000674.1:g.110024014_110024015insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	GRCh37
NC_000012.10:g.108508397_108508398insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	NCBI36
NG_007702.1:g.17515_17516insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC , LRG_156:g.17515_17516insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4637_-91-4636insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000439134.1:n.-91-4637_-91-4636insGTTTCTGAGTCGGAAAGGACT...
ENST00000546277.6:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000438153.2:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000636529.2:n.182+84_182+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC
ENST00000697195.1:c.*395+84_*395+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000513181.1:n.*395+84_*395+85insGTTTCTGAGTCGGAAAGGACTGG...
ENST00000697196.1:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000513182.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000228510.8:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC MANE Select	ENSP00000228510.3:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000636529.1:c.168+84_168+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC
ENST00000636996.1:c.479+84_479+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC
ENST00000228510.7:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000228510.3:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000392727.7:c.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000376487.3:n.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000447878.6:c.*78+84_*78+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000415555.2:n.*78+84_*78+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000537237.5:c.*395+84_*395+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000445382.1:n.*395+84_*395+85insGTTTCTGAGTCGGAAAGGACTGG...
ENST00000539575.4:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000443551.2:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000539696.5:c.-91-4637_-91-4636insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000439134.1:n.-91-4637_-91-4636insGTTTCTGAGTCGGAAAGGACT...
ENST00000545516.1:n.176+84_176+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC
ENST00000545774.5:c.*78+84_*78+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000443978.1:n.*78+84_*78+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000625889.2:c.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000486846.1:n.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAG...
ENST00000629016.2:c.*78+84_*78+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	ENSP00000486804.1:n.*78+84_*78+85insGTTTCTGAGTCGGAAAGGACTGGAG...
NM_000431.3:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	NP_000422.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGT...
NM_001114185.2:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	NP_001107657.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...
NM_001301182.1:c.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	NP_001288111.1:n.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...
XM_011538372.1:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	XP_011536674.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...
XM_017019313.2:c.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	XP_016874802.1:n.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...
XM_017019314.1:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	XP_016874803.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...
XM_024448982.1:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	XP_024304750.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...
NM_000431.4:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC MANE Select	NP_000422.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGT...
NM_001114185.3:c.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	NP_001107657.1:n.631+84_631+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...
NM_001301182.2:c.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCCAGTCTCCTTTGAAGACTCAAATCTGAGCCCCC	NP_001288111.1:n.475+84_475+85insGTTTCTGAGTCGGAAAGGACTGGAGCCC...