Canonical Allele Identifier: CA2062437977

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586053_109586055delinsAAG , CM000674.2:g.109586053_109586055delinsAAG	GRCh38
NC_000012.11:g.110023858_110023860delinsAAG , CM000674.1:g.110023858_110023860delinsAAG	GRCh37
NC_000012.10:g.108508241_108508243delinsAAG	NCBI36
NG_007702.1:g.17359_17361delinsAAG , LRG_156:g.17359_17361delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4793_-91-4791delinsAAG	ENSP00000439134.1:n.-91-4793_-91-4791delinsAAG
ENST00000546277.6:c.559_561delinsAAG	ENSP00000438153.2:p.Lys187=
ENST00000636529.2:n.110_112delinsAAG
ENST00000697195.1:c.*323_*325delinsAAG	ENSP00000513181.1:n.*323_*325delinsAAG
ENST00000697196.1:c.559_561delinsAAG	ENSP00000513182.1:p.Lys187=
ENST00000228510.8:c.559_561delinsAAG MANE Select	ENSP00000228510.3:p.Lys187=
ENST00000636529.1:c.96_98delinsAAG
ENST00000636996.1:c.407_409delinsAAG
ENST00000228510.7:c.559_561delinsAAG	ENSP00000228510.3:p.Lys187=
ENST00000392727.7:c.403_405delinsAAG	ENSP00000376487.3:p.Lys135=
ENST00000447878.6:c.*6_*8delinsAAG	ENSP00000415555.2:n.*6_*8delinsAAG
ENST00000535044.1:n.503_505delinsAAG
ENST00000537237.5:c.*323_*325delinsAAG	ENSP00000445382.1:n.*323_*325delinsAAG
ENST00000539575.4:c.559_561delinsAAG	ENSP00000443551.2:p.Lys187=
ENST00000539696.5:c.-91-4793_-91-4791delinsAAG	ENSP00000439134.1:n.-91-4793_-91-4791delinsAAG
ENST00000545516.1:n.104_106delinsAAG
ENST00000545774.5:c.*6_*8delinsAAG	ENSP00000443978.1:n.*6_*8delinsAAG
ENST00000546277.5:c.559_561delinsAAG	ENSP00000438153.1:p.Lys187=
ENST00000625889.2:c.403_405delinsAAG	ENSP00000486846.1:p.Lys135=
ENST00000629016.2:c.*6_*8delinsAAG	ENSP00000486804.1:n.*6_*8delinsAAG
NM_000431.3:c.559_561delinsAAG	NP_000422.1:p.Lys187=
NM_001114185.2:c.559_561delinsAAG	NP_001107657.1:p.Lys187=
NM_001301182.1:c.403_405delinsAAG	NP_001288111.1:p.Lys135=
XM_011538372.1:c.559_561delinsAAG	XP_011536674.1:p.Lys187=
XM_017019313.2:c.403_405delinsAAG	XP_016874802.1:p.Lys135=
XM_017019314.1:c.559_561delinsAAG	XP_016874803.1:p.Lys187=
XM_024448982.1:c.559_561delinsAAG	XP_024304750.1:p.Lys187=
NM_000431.4:c.559_561delinsAAG MANE Select	NP_000422.1:p.Lys187=
NM_001114185.3:c.559_561delinsAAG	NP_001107657.1:p.Lys187=
NM_001301182.2:c.403_405delinsAAG	NP_001288111.1:p.Lys135=