Canonical Allele Identifier: CA2797412284

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109576140_109576148del , CM000674.2:g.109576140_109576148del	GRCh38
NC_000012.11:g.110013945_110013953del , CM000674.1:g.110013945_110013953del	GRCh37
NC_000012.10:g.108498328_108498336del	NCBI36
NG_007096.1:g.2350_2358del
NG_007702.1:g.7446_7454del , LRG_156:g.7446_7454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+2267_-92+2275del	ENSP00000439134.1:n.-92+2267_-92+2275del
ENST00000546277.6:c.221_226+3del
ENST00000636529.2:n.78+1240_78+1248del
ENST00000697195.1:c.221_226+3del
ENST00000697196.1:c.221_226+3del
ENST00000228510.8:c.221_226+3del
ENST00000636529.1:c.64+1240_64+1248del
ENST00000636996.1:c.214_219+3del
ENST00000639206.1:c.221_226+3del
ENST00000228510.7:c.221_226+3del
ENST00000392727.7:c.221_226+3del
ENST00000447878.6:c.221_226+3del
ENST00000535044.1:n.466_471+3del
ENST00000537237.5:c.221_226+3del
ENST00000539335.5:c.221_226+3del
ENST00000539575.4:c.221_226+3del
ENST00000539696.5:c.-92+2267_-92+2275del	ENSP00000439134.1:n.-92+2267_-92+2275del
ENST00000545774.5:c.221_226+3del
ENST00000546277.5:c.221_226+3del
ENST00000625889.2:c.221_226+3del
ENST00000629016.2:c.221_226+3del
NM_000431.3:c.221_226+3del
NM_001114185.2:c.221_226+3del
NM_001301182.1:c.221_226+3del
XM_011538372.1:c.221_226+3del
XM_017019313.2:c.221_226+3del
XM_017019314.1:c.221_226+3del
XM_024448982.1:c.221_226+3del
NM_000431.4:c.221_226+3del
NM_001114185.3:c.221_226+3del
NM_001301182.2:c.221_226+3del