Canonical Allele Identifier: CA149924

Gene: MVK

Linked Data

• ClinVar Variation Id: 97635
• ClinVar RCV Id: RCV000083887
• dbSNP Id: rs104895381
• MyVariant Identifiers: chr12:g.110013810del (hg19) ; chr12:g.109576005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109576005del , CM000674.2:g.109576005del	GRCh38
NC_000012.11:g.110013810del , CM000674.1:g.110013810del	GRCh37
NC_000012.10:g.108498193del	NCBI36
NG_007096.1:g.2493del
NG_007702.1:g.7311del , LRG_156:g.7311del

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+2132del	ENSP00000439134.1:n.-92+2132del
ENST00000546277.6:c.86del	ENSP00000438153.2:p.Leu29ArgfsTer5
ENST00000636529.2:n.78+1105del
ENST00000697195.1:c.86del	ENSP00000513181.1:p.Leu29ArgfsTer5
ENST00000697196.1:c.86del	ENSP00000513182.1:p.Leu29ArgfsTer5
ENST00000228510.8:c.86del MANE Select	ENSP00000228510.3:p.Leu29ArgfsTer5
ENST00000636529.1:c.64+1105del
ENST00000636996.1:c.79del
ENST00000639206.1:c.86del	ENSP00000492778.1:p.Leu29ArgfsTer5
ENST00000228510.7:c.86del	ENSP00000228510.3:p.Leu29ArgfsTer5
ENST00000392727.7:c.86del	ENSP00000376487.3:p.Leu29ArgfsTer5
ENST00000447878.6:c.86del	ENSP00000415555.2:p.Leu29ArgfsTer5
ENST00000535044.1:n.331del
ENST00000537237.5:c.86del	ENSP00000445382.1:p.Leu29ArgfsTer5
ENST00000539335.5:c.86del	ENSP00000440379.1:p.Leu29ArgfsTer5
ENST00000539575.4:c.86del	ENSP00000443551.2:p.Leu29ArgfsTer5
ENST00000539696.5:c.-92+2132del	ENSP00000439134.1:n.-92+2132del
ENST00000545774.5:c.86del	ENSP00000443978.1:p.Leu29ArgfsTer5
ENST00000546277.5:c.86del	ENSP00000438153.1:p.Leu29ArgfsTer5
ENST00000625889.2:c.86del	ENSP00000486846.1:p.Leu29ArgfsTer5
ENST00000629016.2:c.86del	ENSP00000486804.1:p.Leu29ArgfsTer5
NM_000431.3:c.86del	NP_000422.1:p.Leu29ArgfsTer5
NM_001114185.2:c.86del	NP_001107657.1:p.Leu29ArgfsTer5
NM_001301182.1:c.86del	NP_001288111.1:p.Leu29ArgfsTer5
XM_011538372.1:c.86del	XP_011536674.1:p.Leu29ArgfsTer5
XM_017019313.2:c.86del	XP_016874802.1:p.Leu29ArgfsTer5
XM_017019314.1:c.86del	XP_016874803.1:p.Leu29ArgfsTer5
XM_024448982.1:c.86del	XP_024304750.1:p.Leu29ArgfsTer5
NM_000431.4:c.86del MANE Select	NP_000422.1:p.Leu29ArgfsTer5
NM_001114185.3:c.86del	NP_001107657.1:p.Leu29ArgfsTer5
NM_001301182.2:c.86del	NP_001288111.1:p.Leu29ArgfsTer5