Canonical Allele Identifier: CA2062459928

Gene: MVK

Linked Data

• dbSNP Id: rs1884841579

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574619_109574620insTT , CM000674.2:g.109574619_109574620insTT	GRCh38
NC_000012.11:g.110012424_110012425insTT , CM000674.1:g.110012424_110012425insTT	GRCh37
NC_000012.10:g.108496807_108496808insTT	NCBI36
NG_007096.1:g.3878_3879insAA
NG_007702.1:g.5925_5926insTT , LRG_156:g.5925_5926insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+746_-92+747insTT	ENSP00000439134.1:n.-92+746_-92+747insTT
ENST00000546277.6:c.-14-190_-14-189insTT	ENSP00000438153.2:n.-14-190_-14-189insTT
ENST00000697195.1:c.-204_-203insTT	ENSP00000513181.1:n.-204_-203insTT
ENST00000228510.8:c.-14-190_-14-189insTT MANE Select	ENSP00000228510.3:n.-14-190_-14-189insTT
ENST00000228510.7:c.-14-190_-14-189insTT	ENSP00000228510.3:n.-14-190_-14-189insTT
ENST00000392727.7:c.-14-190_-14-189insTT	ENSP00000376487.3:n.-14-190_-14-189insTT
ENST00000447878.6:c.-14-190_-14-189insTT	ENSP00000415555.2:n.-14-190_-14-189insTT
ENST00000535044.1:n.232-190_232-189insTT
ENST00000537237.5:c.-14-190_-14-189insTT	ENSP00000445382.1:n.-14-190_-14-189insTT
ENST00000539335.5:c.-5-199_-5-198insTT	ENSP00000440379.1:n.-5-199_-5-198insTT
ENST00000539696.5:c.-92+746_-92+747insTT	ENSP00000439134.1:n.-92+746_-92+747insTT
ENST00000545774.5:c.-14-190_-14-189insTT	ENSP00000443978.1:n.-14-190_-14-189insTT
ENST00000546277.5:c.-14-190_-14-189insTT	ENSP00000438153.1:n.-14-190_-14-189insTT
NM_000431.3:c.-14-190_-14-189insTT	NP_000422.1:n.-14-190_-14-189insTT
NM_001114185.2:c.-5-199_-5-198insTT	NP_001107657.1:n.-5-199_-5-198insTT
NM_001301182.1:c.-14-190_-14-189insTT	NP_001288111.1:n.-14-190_-14-189insTT
XM_011538372.1:c.-14-190_-14-189insTT	XP_011536674.1:n.-14-190_-14-189insTT
XM_017019313.2:c.-14-190_-14-189insTT	XP_016874802.1:n.-14-190_-14-189insTT
XM_017019314.1:c.-71_-70insTT	XP_016874803.1:n.-71_-70insTT
XM_024448982.1:c.-14-190_-14-189insTT	XP_024304750.1:n.-14-190_-14-189insTT
NM_000431.4:c.-14-190_-14-189insTT MANE Select	NP_000422.1:n.-14-190_-14-189insTT
NM_001114185.3:c.-5-199_-5-198insTT	NP_001107657.1:n.-5-199_-5-198insTT
NM_001301182.2:c.-14-190_-14-189insTT	NP_001288111.1:n.-14-190_-14-189insTT