Canonical Allele Identifier: CA607288969

Gene: MVK

Linked Data

• dbSNP Id: rs1243261408
• gnomAD v2: 12-110029182-A-AGAATGGCC
• MyVariant Identifiers: chr12:g.110029182_110029183insGAATGGCC (hg19) ; chr12:g.109591377_109591378insGAATGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591377_109591378insGAATGGCC , CM000674.2:g.109591377_109591378insGAATGGCC	GRCh38
NC_000012.11:g.110029182_110029183insGAATGGCC , CM000674.1:g.110029182_110029183insGAATGGCC	GRCh37
NC_000012.10:g.108513565_108513566insGAATGGCC	NCBI36
NG_007702.1:g.22683_22684insGAATGGCC , LRG_156:g.22683_22684insGAATGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+20_42+21insGAATGGCC	ENSP00000439134.1:n.42+20_42+21insGAATGGCC
ENST00000546277.6:c.885+20_885+21insGAATGGCC	ENSP00000438153.2:n.885+20_885+21insGAATGGCC
ENST00000636529.2:n.524+20_524+21insGAATGGCC
ENST00000697195.1:c.*649+20_*649+21insGAATGGCC	ENSP00000513181.1:n.*649+20_*649+21insGAATGGCC
ENST00000697196.1:c.*58+20_*58+21insGAATGGCC	ENSP00000513182.1:n.*58+20_*58+21insGAATGGCC
ENST00000697197.1:n.2914+20_2914+21insGAATGGCC
ENST00000228510.8:c.885+20_885+21insGAATGGCC MANE Select	ENSP00000228510.3:n.885+20_885+21insGAATGGCC
ENST00000636529.1:c.510+20_510+21insGAATGGCC
ENST00000636996.1:c.733+20_733+21insGAATGGCC
ENST00000228510.7:c.885+20_885+21insGAATGGCC	ENSP00000228510.3:n.885+20_885+21insGAATGGCC
ENST00000392727.7:c.729+20_729+21insGAATGGCC	ENSP00000376487.3:n.729+20_729+21insGAATGGCC
ENST00000447878.6:c.*332+20_*332+21insGAATGGCC	ENSP00000415555.2:n.*332+20_*332+21insGAATGGCC
ENST00000537237.5:c.*558+20_*558+21insGAATGGCC	ENSP00000445382.1:n.*558+20_*558+21insGAATGGCC
ENST00000539575.4:c.885+20_885+21insGAATGGCC	ENSP00000443551.2:n.885+20_885+21insGAATGGCC
ENST00000539696.5:c.42+20_42+21insGAATGGCC	ENSP00000439134.1:n.42+20_42+21insGAATGGCC
ENST00000540353.1:n.3118+20_3118+21insGAATGGCC
ENST00000625889.2:c.729+20_729+21insGAATGGCC	ENSP00000486846.1:n.729+20_729+21insGAATGGCC
ENST00000629016.2:c.*332+20_*332+21insGAATGGCC	ENSP00000486804.1:n.*332+20_*332+21insGAATGGCC
NM_000431.3:c.885+20_885+21insGAATGGCC	NP_000422.1:n.885+20_885+21insGAATGGCC
NM_001114185.2:c.885+20_885+21insGAATGGCC	NP_001107657.1:n.885+20_885+21insGAATGGCC
NM_001301182.1:c.729+20_729+21insGAATGGCC	NP_001288111.1:n.729+20_729+21insGAATGGCC
XM_011538372.1:c.885+20_885+21insGAATGGCC	XP_011536674.1:n.885+20_885+21insGAATGGCC
XM_017019313.2:c.729+20_729+21insGAATGGCC	XP_016874802.1:n.729+20_729+21insGAATGGCC
XM_017019314.1:c.885+20_885+21insGAATGGCC	XP_016874803.1:n.885+20_885+21insGAATGGCC
XM_024448982.1:c.905_906insGAATGGCC	XP_024304750.1:p.Pro303AsnfsTer7
NM_000431.4:c.885+20_885+21insGAATGGCC MANE Select	NP_000422.1:n.885+20_885+21insGAATGGCC
NM_001114185.3:c.885+20_885+21insGAATGGCC	NP_001107657.1:n.885+20_885+21insGAATGGCC
NM_001301182.2:c.729+20_729+21insGAATGGCC	NP_001288111.1:n.729+20_729+21insGAATGGCC