Canonical Allele Identifier: CA2620817452

Gene: MVK

Linked Data

• gnomAD v4: 12-109585930-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109585931_109585932del , CM000674.2:g.109585931_109585932del	GRCh38
NC_000012.11:g.110023736_110023737del , CM000674.1:g.110023736_110023737del	GRCh37
NC_000012.10:g.108508119_108508120del	NCBI36
NG_007702.1:g.17237_17238del , LRG_156:g.17237_17238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4915_-91-4914del	ENSP00000439134.1:n.-91-4915_-91-4914del
ENST00000546277.6:c.528-91_528-90del	ENSP00000438153.2:n.528-91_528-90del
ENST00000636529.2:n.79-91_79-90del
ENST00000697195.1:c.*292-91_*292-90del	ENSP00000513181.1:n.*292-91_*292-90del
ENST00000697196.1:c.528-91_528-90del	ENSP00000513182.1:n.528-91_528-90del
ENST00000228510.8:c.528-91_528-90del MANE Select	ENSP00000228510.3:n.528-91_528-90del
ENST00000636529.1:c.65-91_65-90del
ENST00000636996.1:c.376-91_376-90del
ENST00000228510.7:c.528-91_528-90del	ENSP00000228510.3:n.528-91_528-90del
ENST00000392727.7:c.372-91_372-90del	ENSP00000376487.3:n.372-91_372-90del
ENST00000447878.6:c.227-91_227-90del	ENSP00000415555.2:n.227-91_227-90del
ENST00000535044.1:n.472-91_472-90del
ENST00000537237.5:c.*292-91_*292-90del	ENSP00000445382.1:n.*292-91_*292-90del
ENST00000539575.4:c.528-91_528-90del	ENSP00000443551.2:n.528-91_528-90del
ENST00000539696.5:c.-91-4915_-91-4914del	ENSP00000439134.1:n.-91-4915_-91-4914del
ENST00000545516.1:n.73-91_73-90del
ENST00000545774.5:c.227-91_227-90del	ENSP00000443978.1:n.227-91_227-90del
ENST00000546277.5:c.528-91_528-90del	ENSP00000438153.1:n.528-91_528-90del
ENST00000625889.2:c.372-91_372-90del	ENSP00000486846.1:n.372-91_372-90del
ENST00000629016.2:c.227-91_227-90del	ENSP00000486804.1:n.227-91_227-90del
NM_000431.3:c.528-91_528-90del	NP_000422.1:n.528-91_528-90del
NM_001114185.2:c.528-91_528-90del	NP_001107657.1:n.528-91_528-90del
NM_001301182.1:c.372-91_372-90del	NP_001288111.1:n.372-91_372-90del
XM_011538372.1:c.528-91_528-90del	XP_011536674.1:n.528-91_528-90del
XM_017019313.2:c.372-91_372-90del	XP_016874802.1:n.372-91_372-90del
XM_017019314.1:c.528-91_528-90del	XP_016874803.1:n.528-91_528-90del
XM_024448982.1:c.528-91_528-90del	XP_024304750.1:n.528-91_528-90del
NM_000431.4:c.528-91_528-90del MANE Select	NP_000422.1:n.528-91_528-90del
NM_001114185.3:c.528-91_528-90del	NP_001107657.1:n.528-91_528-90del
NM_001301182.2:c.372-91_372-90del	NP_001288111.1:n.372-91_372-90del