Canonical Allele Identifier: CA607288014

Gene: MVK

Linked Data

• dbSNP Id: rs1199929912
• gnomAD v2: 12-110024043-G-GA
• gnomAD v3: 12-109586238-G-GA
• gnomAD v4: 12-109586238-G-GA
• MyVariant Identifiers: chr12:g.110024043_110024044insA (hg19) ; chr12:g.109586238_109586239insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586244dup , CM000674.2:g.109586244dup	GRCh38
NC_000012.11:g.110024049dup , CM000674.1:g.110024049dup	GRCh37
NC_000012.10:g.108508432dup	NCBI36
NG_007702.1:g.17550dup , LRG_156:g.17550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4602dup	ENSP00000439134.1:n.-91-4602dup
ENST00000546277.6:c.631+119dup	ENSP00000438153.2:n.631+119dup
ENST00000636529.2:n.182+119dup
ENST00000697195.1:c.*395+119dup	ENSP00000513181.1:n.*395+119dup
ENST00000697196.1:c.631+119dup	ENSP00000513182.1:n.631+119dup
ENST00000228510.8:c.631+119dup MANE Select	ENSP00000228510.3:n.631+119dup
ENST00000636529.1:c.168+119dup
ENST00000636996.1:c.479+119dup
ENST00000228510.7:c.631+119dup	ENSP00000228510.3:n.631+119dup
ENST00000392727.7:c.475+119dup	ENSP00000376487.3:n.475+119dup
ENST00000447878.6:c.*78+119dup	ENSP00000415555.2:n.*78+119dup
ENST00000537237.5:c.*395+119dup	ENSP00000445382.1:n.*395+119dup
ENST00000539575.4:c.631+119dup	ENSP00000443551.2:n.631+119dup
ENST00000539696.5:c.-91-4602dup	ENSP00000439134.1:n.-91-4602dup
ENST00000545516.1:n.176+119dup
ENST00000545774.5:c.*78+119dup	ENSP00000443978.1:n.*78+119dup
ENST00000625889.2:c.475+119dup	ENSP00000486846.1:n.475+119dup
ENST00000629016.2:c.*78+119dup	ENSP00000486804.1:n.*78+119dup
NM_000431.3:c.631+119dup	NP_000422.1:n.631+119dup
NM_001114185.2:c.631+119dup	NP_001107657.1:n.631+119dup
NM_001301182.1:c.475+119dup	NP_001288111.1:n.475+119dup
XM_011538372.1:c.631+119dup	XP_011536674.1:n.631+119dup
XM_017019313.2:c.475+119dup	XP_016874802.1:n.475+119dup
XM_017019314.1:c.631+119dup	XP_016874803.1:n.631+119dup
XM_024448982.1:c.631+119dup	XP_024304750.1:n.631+119dup
NM_000431.4:c.631+119dup MANE Select	NP_000422.1:n.631+119dup
NM_001114185.3:c.631+119dup	NP_001107657.1:n.631+119dup
NM_001301182.2:c.475+119dup	NP_001288111.1:n.475+119dup