Canonical Allele Identifier: CA2797399559
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109591546_109591547insAG , CM000674.2:g.109591546_109591547insAG GRCh38
NC_000012.11:g.110029351_110029352insAG , CM000674.1:g.110029351_110029352insAG GRCh37
NC_000012.10:g.108513734_108513735insAG NCBI36
NG_007702.1:g.22852_22853insAG , LRG_156:g.22852_22853insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.42+189_42+190insAG ENSP00000439134.1:n.42+189_42+190insAG
ENST00000546277.6:c.885+189_885+190insAG ENSP00000438153.2:n.885+189_885+190insAG
ENST00000636529.2:n.524+189_524+190insAG
ENST00000697195.1:c.*649+189_*649+190insAG ENSP00000513181.1:n.*649+189_*649+190insAG
ENST00000697196.1:c.*58+189_*58+190insAG ENSP00000513182.1:n.*58+189_*58+190insAG
ENST00000697197.1:n.2914+189_2914+190insAG
ENST00000228510.8:c.885+189_885+190insAG MANE Select ENSP00000228510.3:n.885+189_885+190insAG
ENST00000636529.1:c.510+189_510+190insAG
ENST00000636996.1:c.733+189_733+190insAG
ENST00000228510.7:c.885+189_885+190insAG ENSP00000228510.3:n.885+189_885+190insAG
ENST00000392727.7:c.729+189_729+190insAG ENSP00000376487.3:n.729+189_729+190insAG
ENST00000447878.6:c.*332+189_*332+190insAG ENSP00000415555.2:n.*332+189_*332+190insAG
ENST00000537237.5:c.*558+189_*558+190insAG ENSP00000445382.1:n.*558+189_*558+190insAG
ENST00000539575.4:c.885+189_885+190insAG ENSP00000443551.2:n.885+189_885+190insAG
ENST00000539696.5:c.42+189_42+190insAG ENSP00000439134.1:n.42+189_42+190insAG
ENST00000540353.1:n.3118+189_3118+190insAG
ENST00000625889.2:c.729+189_729+190insAG ENSP00000486846.1:n.729+189_729+190insAG
ENST00000629016.2:c.*332+189_*332+190insAG ENSP00000486804.1:n.*332+189_*332+190insAG
NM_000431.3:c.885+189_885+190insAG NP_000422.1:n.885+189_885+190insAG
NM_001114185.2:c.885+189_885+190insAG NP_001107657.1:n.885+189_885+190insAG
NM_001301182.1:c.729+189_729+190insAG NP_001288111.1:n.729+189_729+190insAG
XM_011538372.1:c.885+189_885+190insAG XP_011536674.1:n.885+189_885+190insAG
XM_017019313.2:c.729+189_729+190insAG XP_016874802.1:n.729+189_729+190insAG
XM_017019314.1:c.885+189_885+190insAG XP_016874803.1:n.885+189_885+190insAG
XM_024448982.1:c.1074_1075insAG XP_024304750.1:p.Ser360LeufsTer4
NM_000431.4:c.885+189_885+190insAG MANE Select NP_000422.1:n.885+189_885+190insAG
NM_001114185.3:c.885+189_885+190insAG NP_001107657.1:n.885+189_885+190insAG
NM_001301182.2:c.729+189_729+190insAG NP_001288111.1:n.729+189_729+190insAG