Canonical Allele Identifier: CA149763

Gene: MVK

Linked Data

• ClinVar Variation Id: 97559
• ClinVar RCV Id: RCV000083811
• dbSNP Id: rs104895309
• MyVariant Identifiers: chr12:g.110012614_110012705del (hg19) ; chr12:g.109574809_109574900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574810_109574901del , CM000674.2:g.109574810_109574901del	GRCh38
NC_000012.11:g.110012615_110012706del , CM000674.1:g.110012615_110012706del	GRCh37
NC_000012.10:g.108496998_108497089del	NCBI36
NG_007096.1:g.3600_3691del
NG_007702.1:g.6116_6207del , LRG_156:g.6116_6207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+937_-92+1028del	ENSP00000439134.1:n.-92+937_-92+1028del
ENST00000546277.6:c.-13_78+1del
ENST00000697195.1:c.-13_78+1del
ENST00000228510.8:c.-13_78+1del
ENST00000639206.1:c.-13_78+1del
ENST00000228510.7:c.-13_78+1del
ENST00000392727.7:c.-13_78+1del
ENST00000447878.6:c.-13_78+1del
ENST00000535044.1:n.233_323+1del
ENST00000537237.5:c.-13_78+1del
ENST00000539335.5:c.-5-8_78+1del
ENST00000539575.4:c.-13_78+1del
ENST00000539696.5:c.-92+937_-92+1028del	ENSP00000439134.1:n.-92+937_-92+1028del
ENST00000545774.5:c.-13_78+1del
ENST00000546277.5:c.-13_78+1del
ENST00000625889.2:c.-13_78+1del
ENST00000629016.2:c.-13_78+1del
NM_000431.3:c.-13_78+1del
NM_001114185.2:c.-5-8_78+1del
NM_001301182.1:c.-13_78+1del
XM_011538372.1:c.-13_78+1del
XM_017019313.2:c.-13_78+1del
XM_017019314.1:c.-13_78+1del
XM_024448982.1:c.-13_78+1del
NM_000431.4:c.-13_78+1del
NM_001114185.3:c.-5-8_78+1del
NM_001301182.2:c.-13_78+1del