Canonical Allele Identifier: CA2620818509

Gene: MVK

Linked Data

• gnomAD v4: 12-109591408-A-AAGGCAGTGGCTCTGCAATCTGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591409_109591432dup , CM000674.2:g.109591409_109591432dup	GRCh38
NC_000012.11:g.110029214_110029237dup , CM000674.1:g.110029214_110029237dup	GRCh37
NC_000012.10:g.108513597_108513620dup	NCBI36
NG_007702.1:g.22715_22738dup , LRG_156:g.22715_22738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+52_42+75dup	ENSP00000439134.1:n.42+52_42+75dup
ENST00000546277.6:c.885+52_885+75dup	ENSP00000438153.2:n.885+52_885+75dup
ENST00000636529.2:n.524+52_524+75dup
ENST00000697195.1:c.*649+52_*649+75dup	ENSP00000513181.1:n.*649+52_*649+75dup
ENST00000697196.1:c.*58+52_*58+75dup	ENSP00000513182.1:n.*58+52_*58+75dup
ENST00000697197.1:n.2914+52_2914+75dup
ENST00000228510.8:c.885+52_885+75dup MANE Select	ENSP00000228510.3:n.885+52_885+75dup
ENST00000636529.1:c.510+52_510+75dup
ENST00000636996.1:c.733+52_733+75dup
ENST00000228510.7:c.885+52_885+75dup	ENSP00000228510.3:n.885+52_885+75dup
ENST00000392727.7:c.729+52_729+75dup	ENSP00000376487.3:n.729+52_729+75dup
ENST00000447878.6:c.*332+52_*332+75dup	ENSP00000415555.2:n.*332+52_*332+75dup
ENST00000537237.5:c.*558+52_*558+75dup	ENSP00000445382.1:n.*558+52_*558+75dup
ENST00000539575.4:c.885+52_885+75dup	ENSP00000443551.2:n.885+52_885+75dup
ENST00000539696.5:c.42+52_42+75dup	ENSP00000439134.1:n.42+52_42+75dup
ENST00000540353.1:n.3118+52_3118+75dup
ENST00000625889.2:c.729+52_729+75dup	ENSP00000486846.1:n.729+52_729+75dup
ENST00000629016.2:c.*332+52_*332+75dup	ENSP00000486804.1:n.*332+52_*332+75dup
NM_000431.3:c.885+52_885+75dup	NP_000422.1:n.885+52_885+75dup
NM_001114185.2:c.885+52_885+75dup	NP_001107657.1:n.885+52_885+75dup
NM_001301182.1:c.729+52_729+75dup	NP_001288111.1:n.729+52_729+75dup
XM_011538372.1:c.885+52_885+75dup	XP_011536674.1:n.885+52_885+75dup
XM_017019313.2:c.729+52_729+75dup	XP_016874802.1:n.729+52_729+75dup
XM_017019314.1:c.885+52_885+75dup	XP_016874803.1:n.885+52_885+75dup
XM_024448982.1:c.937_960dup	XP_024304750.1:p.Ala320_Val321insArgGlnTrpLeuCysAsnLeuAla
NM_000431.4:c.885+52_885+75dup MANE Select	NP_000422.1:n.885+52_885+75dup
NM_001114185.3:c.885+52_885+75dup	NP_001107657.1:n.885+52_885+75dup
NM_001301182.2:c.729+52_729+75dup	NP_001288111.1:n.729+52_729+75dup