Canonical Allele Identifier: CA2797412087
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109574671_109574674del , CM000674.2:g.109574671_109574674del GRCh38
NC_000012.11:g.110012476_110012479del , CM000674.1:g.110012476_110012479del GRCh37
NC_000012.10:g.108496859_108496862del NCBI36
NG_007096.1:g.3826_3829del
NG_007702.1:g.5977_5980del , LRG_156:g.5977_5980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-92+798_-92+801del ENSP00000439134.1:n.-92+798_-92+801del
ENST00000546277.6:c.-14-138_-14-135del ENSP00000438153.2:n.-14-138_-14-135del
ENST00000697195.1:c.-152_-149del ENSP00000513181.1:n.-152_-149del
ENST00000228510.8:c.-14-138_-14-135del MANE Select ENSP00000228510.3:n.-14-138_-14-135del
ENST00000228510.7:c.-14-138_-14-135del ENSP00000228510.3:n.-14-138_-14-135del
ENST00000392727.7:c.-14-138_-14-135del ENSP00000376487.3:n.-14-138_-14-135del
ENST00000447878.6:c.-14-138_-14-135del ENSP00000415555.2:n.-14-138_-14-135del
ENST00000535044.1:n.232-138_232-135del
ENST00000537237.5:c.-14-138_-14-135del ENSP00000445382.1:n.-14-138_-14-135del
ENST00000539335.5:c.-5-147_-5-144del ENSP00000440379.1:n.-5-147_-5-144del
ENST00000539696.5:c.-92+798_-92+801del ENSP00000439134.1:n.-92+798_-92+801del
ENST00000545774.5:c.-14-138_-14-135del ENSP00000443978.1:n.-14-138_-14-135del
ENST00000546277.5:c.-14-138_-14-135del ENSP00000438153.1:n.-14-138_-14-135del
NM_000431.3:c.-14-138_-14-135del NP_000422.1:n.-14-138_-14-135del
NM_001114185.2:c.-5-147_-5-144del NP_001107657.1:n.-5-147_-5-144del
NM_001301182.1:c.-14-138_-14-135del NP_001288111.1:n.-14-138_-14-135del
XM_011538372.1:c.-14-138_-14-135del XP_011536674.1:n.-14-138_-14-135del
XM_017019313.2:c.-14-138_-14-135del XP_016874802.1:n.-14-138_-14-135del
XM_017019314.1:c.-19_-16del XP_016874803.1:n.-19_-16del
XM_024448982.1:c.-14-138_-14-135del XP_024304750.1:n.-14-138_-14-135del
NM_000431.4:c.-14-138_-14-135del MANE Select NP_000422.1:n.-14-138_-14-135del
NM_001114185.3:c.-5-147_-5-144del NP_001107657.1:n.-5-147_-5-144del
NM_001301182.2:c.-14-138_-14-135del NP_001288111.1:n.-14-138_-14-135del