Canonical Allele Identifier: CA2695217357

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596444_109596457del , CM000674.2:g.109596444_109596457del	GRCh38
NC_000012.11:g.110034249_110034262del , CM000674.1:g.110034249_110034262del	GRCh37
NC_000012.10:g.108518632_108518645del	NCBI36
NG_007702.1:g.27750_27763del , LRG_156:g.27750_27763del

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.215_228del	ENSP00000439134.1:p.Val72AlafsTer9
ENST00000546277.6:c.1058_1071del	ENSP00000438153.2:p.Val353AlafsTer9
ENST00000636529.2:n.697_710del
ENST00000697195.1:c.*822_*835del	ENSP00000513181.1:n.*822_*835del
ENST00000697196.1:c.*231_*244del	ENSP00000513182.1:n.*231_*244del
ENST00000697197.1:n.3087_3100del
ENST00000697198.1:n.1442_1455del
ENST00000228510.8:c.1058_1071del MANE Select	ENSP00000228510.3:p.Val353AlafsTer9
ENST00000636529.1:c.683_696del
ENST00000636996.1:c.906_919del
ENST00000228510.7:c.1058_1071del	ENSP00000228510.3:p.Val353AlafsTer9
ENST00000392727.7:c.902_915del	ENSP00000376487.3:p.Val301AlafsTer9
ENST00000447878.6:c.*505_*518del	ENSP00000415555.2:n.*505_*518del
ENST00000537237.5:c.*731_*744del	ENSP00000445382.1:n.*731_*744del
ENST00000539575.4:c.1058_1071del	ENSP00000443551.2:p.Val353AlafsTer9
ENST00000539696.5:c.215_228del	ENSP00000439134.1:p.Val72AlafsTer9
ENST00000540353.1:n.3291_3304del
ENST00000625889.2:c.902_915del	ENSP00000486846.1:p.Val301AlafsTer9
ENST00000629016.2:c.*505_*518del	ENSP00000486804.1:n.*505_*518del
NM_000431.3:c.1058_1071del	NP_000422.1:p.Val353AlafsTer9
NM_001114185.2:c.1058_1071del	NP_001107657.1:p.Val353AlafsTer9
NM_001301182.1:c.902_915del	NP_001288111.1:p.Val301AlafsTer9
XM_011538372.1:c.1058_1071del	XP_011536674.1:p.Val353AlafsTer9
XM_017019313.2:c.902_915del	XP_016874802.1:p.Val301AlafsTer9
XM_017019314.1:c.1058_1071del	XP_016874803.1:p.Val353AlafsTer9
NM_000431.4:c.1058_1071del MANE Select	NP_000422.1:p.Val353AlafsTer9
NM_001114185.3:c.1058_1071del	NP_001107657.1:p.Val353AlafsTer9
NM_001301182.2:c.902_915del	NP_001288111.1:p.Val301AlafsTer9