Canonical Allele Identifier: CA2620818702

Gene: MVK

Linked Data

• gnomAD v4: 12-109595168-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595172_109595174del , CM000674.2:g.109595172_109595174del	GRCh38
NC_000012.11:g.110032977_110032979del , CM000674.1:g.110032977_110032979del	GRCh37
NC_000012.10:g.108517360_108517362del	NCBI36
NG_007702.1:g.26478_26480del , LRG_156:g.26478_26480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.187_189del	ENSP00000439134.1:p.Leu63del
ENST00000546277.6:c.1030_1032del	ENSP00000438153.2:p.Leu344del
ENST00000636529.2:n.669_671del
ENST00000697195.1:c.*794_*796del	ENSP00000513181.1:n.*794_*796del
ENST00000697196.1:c.*203_*205del	ENSP00000513182.1:n.*203_*205del
ENST00000697197.1:n.3059_3061del
ENST00000697198.1:n.1414_1416del
ENST00000228510.8:c.1030_1032del MANE Select	ENSP00000228510.3:p.Leu344del
ENST00000636529.1:c.655_657del
ENST00000636996.1:c.878_880del
ENST00000228510.7:c.1030_1032del	ENSP00000228510.3:p.Leu344del
ENST00000392727.7:c.874_876del	ENSP00000376487.3:p.Leu292del
ENST00000447878.6:c.*477_*479del	ENSP00000415555.2:n.*477_*479del
ENST00000537237.5:c.*703_*705del	ENSP00000445382.1:n.*703_*705del
ENST00000539575.4:c.1030_1032del	ENSP00000443551.2:p.Leu344del
ENST00000539696.5:c.187_189del	ENSP00000439134.1:p.Leu63del
ENST00000540353.1:n.3263_3265del
ENST00000625889.2:c.874_876del	ENSP00000486846.1:p.Leu292del
ENST00000629016.2:c.*477_*479del	ENSP00000486804.1:n.*477_*479del
NM_000431.3:c.1030_1032del	NP_000422.1:p.Leu344del
NM_001114185.2:c.1030_1032del	NP_001107657.1:p.Leu344del
NM_001301182.1:c.874_876del	NP_001288111.1:p.Leu292del
XM_011538372.1:c.1030_1032del	XP_011536674.1:p.Leu344del
XM_017019313.2:c.874_876del	XP_016874802.1:p.Leu292del
XM_017019314.1:c.1030_1032del	XP_016874803.1:p.Leu344del
NM_000431.4:c.1030_1032del MANE Select	NP_000422.1:p.Leu344del
NM_001114185.3:c.1030_1032del	NP_001107657.1:p.Leu344del
NM_001301182.2:c.874_876del	NP_001288111.1:p.Leu292del