Canonical Allele Identifier: CA2797399485

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591489_109591490insAGG , CM000674.2:g.109591489_109591490insAGG	GRCh38
NC_000012.11:g.110029294_110029295insAGG , CM000674.1:g.110029294_110029295insAGG	GRCh37
NC_000012.10:g.108513677_108513678insAGG	NCBI36
NG_007702.1:g.22795_22796insAGG , LRG_156:g.22795_22796insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+132_42+133insAGG	ENSP00000439134.1:n.42+132_42+133insAGG
ENST00000546277.6:c.885+132_885+133insAGG	ENSP00000438153.2:n.885+132_885+133insAGG
ENST00000636529.2:n.524+132_524+133insAGG
ENST00000697195.1:c.*649+132_*649+133insAGG	ENSP00000513181.1:n.*649+132_*649+133insAGG
ENST00000697196.1:c.*58+132_*58+133insAGG	ENSP00000513182.1:n.*58+132_*58+133insAGG
ENST00000697197.1:n.2914+132_2914+133insAGG
ENST00000228510.8:c.885+132_885+133insAGG MANE Select	ENSP00000228510.3:n.885+132_885+133insAGG
ENST00000636529.1:c.510+132_510+133insAGG
ENST00000636996.1:c.733+132_733+133insAGG
ENST00000228510.7:c.885+132_885+133insAGG	ENSP00000228510.3:n.885+132_885+133insAGG
ENST00000392727.7:c.729+132_729+133insAGG	ENSP00000376487.3:n.729+132_729+133insAGG
ENST00000447878.6:c.*332+132_*332+133insAGG	ENSP00000415555.2:n.*332+132_*332+133insAGG
ENST00000537237.5:c.*558+132_*558+133insAGG	ENSP00000445382.1:n.*558+132_*558+133insAGG
ENST00000539575.4:c.885+132_885+133insAGG	ENSP00000443551.2:n.885+132_885+133insAGG
ENST00000539696.5:c.42+132_42+133insAGG	ENSP00000439134.1:n.42+132_42+133insAGG
ENST00000540353.1:n.3118+132_3118+133insAGG
ENST00000625889.2:c.729+132_729+133insAGG	ENSP00000486846.1:n.729+132_729+133insAGG
ENST00000629016.2:c.*332+132_*332+133insAGG	ENSP00000486804.1:n.*332+132_*332+133insAGG
NM_000431.3:c.885+132_885+133insAGG	NP_000422.1:n.885+132_885+133insAGG
NM_001114185.2:c.885+132_885+133insAGG	NP_001107657.1:n.885+132_885+133insAGG
NM_001301182.1:c.729+132_729+133insAGG	NP_001288111.1:n.729+132_729+133insAGG
XM_011538372.1:c.885+132_885+133insAGG	XP_011536674.1:n.885+132_885+133insAGG
XM_017019313.2:c.729+132_729+133insAGG	XP_016874802.1:n.729+132_729+133insAGG
XM_017019314.1:c.885+132_885+133insAGG	XP_016874803.1:n.885+132_885+133insAGG
XM_024448982.1:c.1017_1018insAGG	XP_024304750.1:p.Tyr339_Ala340insArg
NM_000431.4:c.885+132_885+133insAGG MANE Select	NP_000422.1:n.885+132_885+133insAGG
NM_001114185.3:c.885+132_885+133insAGG	NP_001107657.1:n.885+132_885+133insAGG
NM_001301182.2:c.729+132_729+133insAGG	NP_001288111.1:n.729+132_729+133insAGG