Canonical Allele Identifier: CA212930
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 11935
ClinVar RCV Id: RCV000012713 RCV000083827
dbSNP Id: rs104895334
MyVariant Identifiers: chr12:g.110012643_110012661del (hg19) chr12:g.109574838_109574856del (hg38)
PubMed: PMID:15536479
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109574838_109574856del , CM000674.2:g.109574838_109574856del GRCh38
NC_000012.11:g.110012643_110012661del , CM000674.1:g.110012643_110012661del GRCh37
NC_000012.10:g.108497026_108497044del NCBI36
NG_007096.1:g.3642_3660del
NG_007702.1:g.6144_6162del , LRG_156:g.6144_6162del

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-92+965_-92+983del ENSP00000439134.1:n.-92+965_-92+983del
ENST00000546277.6:c.16_34del ENSP00000438153.2:p.Leu6GlyfsTer16
ENST00000636529.2:n.16_34del
ENST00000697195.1:c.16_34del ENSP00000513181.1:p.Leu6GlyfsTer16
ENST00000697196.1:c.16_34del ENSP00000513182.1:p.Leu6GlyfsTer16
ENST00000228510.8:c.16_34del MANE Select ENSP00000228510.3:p.Leu6GlyfsTer16
ENST00000636529.1:c.2_20del
ENST00000636996.1:c.9_27del
ENST00000639206.1:c.16_34del ENSP00000492778.1:p.Leu6GlyfsTer16
ENST00000228510.7:c.16_34del ENSP00000228510.3:p.Leu6GlyfsTer16
ENST00000392727.7:c.16_34del ENSP00000376487.3:p.Leu6GlyfsTer16
ENST00000447878.6:c.16_34del ENSP00000415555.2:p.Leu6GlyfsTer16
ENST00000535044.1:n.261_279del
ENST00000537237.5:c.16_34del ENSP00000445382.1:p.Leu6GlyfsTer16
ENST00000539335.5:c.16_34del ENSP00000440379.1:p.Leu6GlyfsTer16
ENST00000539575.4:c.16_34del ENSP00000443551.2:p.Leu6GlyfsTer16
ENST00000539696.5:c.-92+965_-92+983del ENSP00000439134.1:n.-92+965_-92+983del
ENST00000545774.5:c.16_34del ENSP00000443978.1:p.Leu6GlyfsTer16
ENST00000546277.5:c.16_34del ENSP00000438153.1:p.Leu6GlyfsTer16
ENST00000625889.2:c.16_34del ENSP00000486846.1:p.Leu6GlyfsTer16
ENST00000629016.2:c.16_34del ENSP00000486804.1:p.Leu6GlyfsTer16
NM_000431.3:c.16_34del NP_000422.1:p.Leu6GlyfsTer16
NM_001114185.2:c.16_34del NP_001107657.1:p.Leu6GlyfsTer16
NM_001301182.1:c.16_34del NP_001288111.1:p.Leu6GlyfsTer16
XM_011538372.1:c.16_34del XP_011536674.1:p.Leu6GlyfsTer16
XM_017019313.2:c.16_34del XP_016874802.1:p.Leu6GlyfsTer16
XM_017019314.1:c.16_34del XP_016874803.1:p.Leu6GlyfsTer16
XM_024448982.1:c.16_34del XP_024304750.1:p.Leu6GlyfsTer16
NM_000431.4:c.16_34del MANE Select NP_000422.1:p.Leu6GlyfsTer16
NM_001114185.3:c.16_34del NP_001107657.1:p.Leu6GlyfsTer16
NM_001301182.2:c.16_34del NP_001288111.1:p.Leu6GlyfsTer16
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