Canonical Allele Identifier: CA6779312

Gene: MVK

Linked Data

• dbSNP Id: rs771742510
• ExAC: 12:110023924 ACCTGGGGTAGGTGTGGCC / A
• gnomAD v2: 12-110023924-ACCTGGGGTAGGTGTGGCC-A
• MyVariant Identifiers: chr12:g.110023925_110023942del (hg19) ; chr12:g.109586120_109586137del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586120_109586137del , CM000674.2:g.109586120_109586137del	GRCh38
NC_000012.11:g.110023925_110023942del , CM000674.1:g.110023925_110023942del	GRCh37
NC_000012.10:g.108508308_108508325del	NCBI36
NG_007702.1:g.17426_17443del , LRG_156:g.17426_17443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4726_-91-4709del	ENSP00000439134.1:n.-91-4726_-91-4709del
ENST00000546277.6:c.626_631+12del
ENST00000636529.2:n.177_182+12del
ENST00000697195.1:c.*390_*395+12del
ENST00000697196.1:c.626_631+12del
ENST00000228510.8:c.626_631+12del
ENST00000636529.1:c.163_168+12del
ENST00000636996.1:c.474_479+12del
ENST00000228510.7:c.626_631+12del
ENST00000392727.7:c.470_475+12del
ENST00000447878.6:c.*73_*78+12del
ENST00000537237.5:c.*390_*395+12del
ENST00000539575.4:c.626_631+12del
ENST00000539696.5:c.-91-4726_-91-4709del	ENSP00000439134.1:n.-91-4726_-91-4709del
ENST00000545516.1:n.171_176+12del
ENST00000545774.5:c.*73_*78+12del
ENST00000625889.2:c.470_475+12del
ENST00000629016.2:c.*73_*78+12del
NM_000431.3:c.626_631+12del
NM_001114185.2:c.626_631+12del
NM_001301182.1:c.470_475+12del
XM_011538372.1:c.626_631+12del
XM_017019313.2:c.470_475+12del
XM_017019314.1:c.626_631+12del
XM_024448982.1:c.626_631+12del
NM_000431.4:c.626_631+12del
NM_001114185.3:c.626_631+12del
NM_001301182.2:c.470_475+12del