Canonical Allele Identifier: CA2062443538

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590778_109590780delinsGCT , CM000674.2:g.109590778_109590780delinsGCT	GRCh38
NC_000012.11:g.110028583_110028585delinsGCT , CM000674.1:g.110028583_110028585delinsGCT	GRCh37
NC_000012.10:g.108512966_108512968delinsGCT	NCBI36
NG_007702.1:g.22084_22086delinsGCT , LRG_156:g.22084_22086delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-68_-91-66delinsGCT	ENSP00000439134.1:n.-91-68_-91-66delinsGCT
ENST00000546277.6:c.685_687delinsGCT	ENSP00000438153.2:p.Ala229=
ENST00000636529.2:n.324_326delinsGCT
ENST00000697195.1:c.*449_*451delinsGCT	ENSP00000513181.1:n.*449_*451delinsGCT
ENST00000697196.1:c.773_775delinsGCT	ENSP00000513182.1:p.Ser258=
ENST00000697197.1:n.2335_2337delinsGCT
ENST00000228510.8:c.685_687delinsGCT MANE Select	ENSP00000228510.3:p.Ala229=
ENST00000636529.1:c.310_312delinsGCT
ENST00000636996.1:c.533_535delinsGCT
ENST00000228510.7:c.685_687delinsGCT	ENSP00000228510.3:p.Ala229=
ENST00000392727.7:c.529_531delinsGCT	ENSP00000376487.3:p.Ala177=
ENST00000447878.6:c.*132_*134delinsGCT	ENSP00000415555.2:n.*132_*134delinsGCT
ENST00000537237.5:c.*442-463_*442-461delinsGCT	ENSP00000445382.1:n.*442-463_*442-461delinsGCT
ENST00000539575.4:c.685_687delinsGCT	ENSP00000443551.2:p.Ala229=
ENST00000539696.5:c.-91-68_-91-66delinsGCT	ENSP00000439134.1:n.-91-68_-91-66delinsGCT
ENST00000540353.1:n.2918_2920delinsGCT
ENST00000625889.2:c.529_531delinsGCT	ENSP00000486846.1:p.Ala177=
ENST00000629016.2:c.*132_*134delinsGCT	ENSP00000486804.1:n.*132_*134delinsGCT
NM_000431.3:c.685_687delinsGCT	NP_000422.1:p.Ala229=
NM_001114185.2:c.685_687delinsGCT	NP_001107657.1:p.Ala229=
NM_001301182.1:c.529_531delinsGCT	NP_001288111.1:p.Ala177=
XM_011538372.1:c.685_687delinsGCT	XP_011536674.1:p.Ala229=
XM_017019313.2:c.529_531delinsGCT	XP_016874802.1:p.Ala177=
XM_017019314.1:c.685_687delinsGCT	XP_016874803.1:p.Ala229=
XM_024448982.1:c.685_687delinsGCT	XP_024304750.1:p.Ala229=
NM_000431.4:c.685_687delinsGCT MANE Select	NP_000422.1:p.Ala229=
NM_001114185.3:c.685_687delinsGCT	NP_001107657.1:p.Ala229=
NM_001301182.2:c.529_531delinsGCT	NP_001288111.1:p.Ala177=