Canonical Allele Identifier: CA2062460036
Gene: MVK HGNC NCBI

Linked Data

dbSNP Id: rs1884851335

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109574738_109574747del , CM000674.2:g.109574738_109574747del GRCh38
NC_000012.11:g.110012543_110012552del , CM000674.1:g.110012543_110012552del GRCh37
NC_000012.10:g.108496926_108496935del NCBI36
NG_007096.1:g.3752_3761del
NG_007702.1:g.6044_6053del , LRG_156:g.6044_6053del

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-92+865_-92+874del ENSP00000439134.1:n.-92+865_-92+874del
ENST00000546277.6:c.-14-71_-14-62del ENSP00000438153.2:n.-14-71_-14-62del
ENST00000697195.1:c.-85_-76del ENSP00000513181.1:n.-85_-76del
ENST00000228510.8:c.-14-71_-14-62del MANE Select ENSP00000228510.3:n.-14-71_-14-62del
ENST00000228510.7:c.-14-71_-14-62del ENSP00000228510.3:n.-14-71_-14-62del
ENST00000392727.7:c.-14-71_-14-62del ENSP00000376487.3:n.-14-71_-14-62del
ENST00000447878.6:c.-14-71_-14-62del ENSP00000415555.2:n.-14-71_-14-62del
ENST00000535044.1:n.232-71_232-62del
ENST00000537237.5:c.-14-71_-14-62del ENSP00000445382.1:n.-14-71_-14-62del
ENST00000539335.5:c.-5-80_-5-71del ENSP00000440379.1:n.-5-80_-5-71del
ENST00000539696.5:c.-92+865_-92+874del ENSP00000439134.1:n.-92+865_-92+874del
ENST00000545774.5:c.-14-71_-14-62del ENSP00000443978.1:n.-14-71_-14-62del
ENST00000546277.5:c.-14-71_-14-62del ENSP00000438153.1:n.-14-71_-14-62del
NM_000431.3:c.-14-71_-14-62del NP_000422.1:n.-14-71_-14-62del
NM_001114185.2:c.-5-80_-5-71del NP_001107657.1:n.-5-80_-5-71del
NM_001301182.1:c.-14-71_-14-62del NP_001288111.1:n.-14-71_-14-62del
XM_011538372.1:c.-14-71_-14-62del XP_011536674.1:n.-14-71_-14-62del
XM_017019313.2:c.-14-71_-14-62del XP_016874802.1:n.-14-71_-14-62del
XM_017019314.1:c.-15+63_-14-62del XP_016874803.1:n.-15+63_-14-62del
XM_024448982.1:c.-14-71_-14-62del XP_024304750.1:n.-14-71_-14-62del
NM_000431.4:c.-14-71_-14-62del MANE Select NP_000422.1:n.-14-71_-14-62del
NM_001114185.3:c.-5-80_-5-71del NP_001107657.1:n.-5-80_-5-71del
NM_001301182.2:c.-14-71_-14-62del NP_001288111.1:n.-14-71_-14-62del