Canonical Allele Identifier: CA2797399569

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591560_109591561insAGG , CM000674.2:g.109591560_109591561insAGG	GRCh38
NC_000012.11:g.110029365_110029366insAGG , CM000674.1:g.110029365_110029366insAGG	GRCh37
NC_000012.10:g.108513748_108513749insAGG	NCBI36
NG_007702.1:g.22866_22867insAGG , LRG_156:g.22866_22867insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+203_42+204insAGG	ENSP00000439134.1:n.42+203_42+204insAGG
ENST00000546277.6:c.885+203_885+204insAGG	ENSP00000438153.2:n.885+203_885+204insAGG
ENST00000636529.2:n.524+203_524+204insAGG
ENST00000697195.1:c.*649+203_*649+204insAGG	ENSP00000513181.1:n.*649+203_*649+204insAGG
ENST00000697196.1:c.*58+203_*58+204insAGG	ENSP00000513182.1:n.*58+203_*58+204insAGG
ENST00000697197.1:n.2914+203_2914+204insAGG
ENST00000228510.8:c.885+203_885+204insAGG MANE Select	ENSP00000228510.3:n.885+203_885+204insAGG
ENST00000636529.1:c.510+203_510+204insAGG
ENST00000636996.1:c.733+203_733+204insAGG
ENST00000228510.7:c.885+203_885+204insAGG	ENSP00000228510.3:n.885+203_885+204insAGG
ENST00000392727.7:c.729+203_729+204insAGG	ENSP00000376487.3:n.729+203_729+204insAGG
ENST00000447878.6:c.*332+203_*332+204insAGG	ENSP00000415555.2:n.*332+203_*332+204insAGG
ENST00000537237.5:c.*558+203_*558+204insAGG	ENSP00000445382.1:n.*558+203_*558+204insAGG
ENST00000539575.4:c.885+203_885+204insAGG	ENSP00000443551.2:n.885+203_885+204insAGG
ENST00000539696.5:c.42+203_42+204insAGG	ENSP00000439134.1:n.42+203_42+204insAGG
ENST00000540353.1:n.3118+203_3118+204insAGG
ENST00000625889.2:c.729+203_729+204insAGG	ENSP00000486846.1:n.729+203_729+204insAGG
ENST00000629016.2:c.*332+203_*332+204insAGG	ENSP00000486804.1:n.*332+203_*332+204insAGG
NM_000431.3:c.885+203_885+204insAGG	NP_000422.1:n.885+203_885+204insAGG
NM_001114185.2:c.885+203_885+204insAGG	NP_001107657.1:n.885+203_885+204insAGG
NM_001301182.1:c.729+203_729+204insAGG	NP_001288111.1:n.729+203_729+204insAGG
XM_011538372.1:c.885+203_885+204insAGG	XP_011536674.1:n.885+203_885+204insAGG
XM_017019313.2:c.729+203_729+204insAGG	XP_016874802.1:n.729+203_729+204insAGG
XM_017019314.1:c.885+203_885+204insAGG	XP_016874803.1:n.885+203_885+204insAGG
XM_024448982.1:c.1088_1089insAGG	XP_024304750.1:p.Ile363_Pro364insGly
NM_000431.4:c.885+203_885+204insAGG MANE Select	NP_000422.1:n.885+203_885+204insAGG
NM_001114185.3:c.885+203_885+204insAGG	NP_001107657.1:n.885+203_885+204insAGG
NM_001301182.2:c.729+203_729+204insAGG	NP_001288111.1:n.729+203_729+204insAGG