Canonical Allele Identifier: CA2695217242

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574812_109574900del , CM000674.2:g.109574812_109574900del	GRCh38
NC_000012.11:g.110012617_110012705del , CM000674.1:g.110012617_110012705del	GRCh37
NC_000012.10:g.108497000_108497088del	NCBI36
NG_007096.1:g.3598_3686del
NG_007702.1:g.6118_6206del , LRG_156:g.6118_6206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+939_-92+1027del	ENSP00000439134.1:n.-92+939_-92+1027del
ENST00000546277.6:c.-11_78del
ENST00000697195.1:c.-11_78del
ENST00000228510.8:c.-11_78del
ENST00000639206.1:c.-11_78del
ENST00000228510.7:c.-11_78del
ENST00000392727.7:c.-11_78del
ENST00000447878.6:c.-11_78del
ENST00000535044.1:n.235_323del
ENST00000537237.5:c.-11_78del
ENST00000539335.5:c.-5-6_78del
ENST00000539575.4:c.-11_78del
ENST00000539696.5:c.-92+939_-92+1027del	ENSP00000439134.1:n.-92+939_-92+1027del
ENST00000545774.5:c.-11_78del
ENST00000546277.5:c.-11_78del
ENST00000625889.2:c.-11_78del
ENST00000629016.2:c.-11_78del
NM_000431.3:c.-11_78del
NM_001114185.2:c.-5-6_78del
NM_001301182.1:c.-11_78del
XM_011538372.1:c.-11_78del
XM_017019313.2:c.-11_78del
XM_017019314.1:c.-11_78del
XM_024448982.1:c.-11_78del
NM_000431.4:c.-11_78del
NM_001114185.3:c.-5-6_78del
NM_001301182.2:c.-11_78del