Canonical Allele Identifier: CA481714869

Gene: MVK

Linked Data

• dbSNP Id: rs1885664895
• COSMIC: COSM1239504
• MyVariant Identifiers: chr12:g.110029062del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591262del , CM000674.2:g.109591262del	GRCh38
NC_000012.11:g.110029067del , CM000674.1:g.110029067del	GRCh37
NC_000012.10:g.108513450del	NCBI36
NG_007702.1:g.22568del , LRG_156:g.22568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-54del	ENSP00000439134.1:n.-54del
ENST00000546277.6:c.790del	ENSP00000438153.2:p.Leu264SerfsTer2
ENST00000636529.2:n.429del
ENST00000697195.1:c.*554del	ENSP00000513181.1:n.*554del
ENST00000697196.1:c.878del	ENSP00000513182.1:p.Pro293LeufsTer?
ENST00000697197.1:n.2819del
ENST00000228510.8:c.790del MANE Select	ENSP00000228510.3:p.Leu264SerfsTer2
ENST00000636529.1:c.415del
ENST00000636996.1:c.638del
ENST00000228510.7:c.790del	ENSP00000228510.3:p.Leu264SerfsTer2
ENST00000392727.7:c.634del	ENSP00000376487.3:p.Leu212SerfsTer2
ENST00000447878.6:c.*237del	ENSP00000415555.2:n.*237del
ENST00000537237.5:c.*463del	ENSP00000445382.1:n.*463del
ENST00000539575.4:c.790del	ENSP00000443551.2:p.Leu264SerfsTer2
ENST00000539696.5:c.-54del	ENSP00000439134.1:n.-54del
ENST00000540353.1:n.3023del
ENST00000625889.2:c.634del	ENSP00000486846.1:p.Leu212SerfsTer2
ENST00000629016.2:c.*237del	ENSP00000486804.1:n.*237del
NM_000431.3:c.790del	NP_000422.1:p.Leu264SerfsTer2
NM_001114185.2:c.790del	NP_001107657.1:p.Leu264SerfsTer2
NM_001301182.1:c.634del	NP_001288111.1:p.Leu212SerfsTer2
XM_011538372.1:c.790del	XP_011536674.1:p.Leu264SerfsTer2
XM_017019313.2:c.634del	XP_016874802.1:p.Leu212SerfsTer2
XM_017019314.1:c.790del	XP_016874803.1:p.Leu264SerfsTer2
XM_024448982.1:c.790del	XP_024304750.1:p.Leu264SerfsTer2
NM_000431.4:c.790del MANE Select	NP_000422.1:p.Leu264SerfsTer2
NM_001114185.3:c.790del	NP_001107657.1:p.Leu264SerfsTer2
NM_001301182.2:c.634del	NP_001288111.1:p.Leu212SerfsTer2