Canonical Allele Identifier: CA2797399519

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591518_109591519insAG , CM000674.2:g.109591518_109591519insAG	GRCh38
NC_000012.11:g.110029323_110029324insAG , CM000674.1:g.110029323_110029324insAG	GRCh37
NC_000012.10:g.108513706_108513707insAG	NCBI36
NG_007702.1:g.22824_22825insAG , LRG_156:g.22824_22825insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+161_42+162insAG	ENSP00000439134.1:n.42+161_42+162insAG
ENST00000546277.6:c.885+161_885+162insAG	ENSP00000438153.2:n.885+161_885+162insAG
ENST00000636529.2:n.524+161_524+162insAG
ENST00000697195.1:c.*649+161_*649+162insAG	ENSP00000513181.1:n.*649+161_*649+162insAG
ENST00000697196.1:c.*58+161_*58+162insAG	ENSP00000513182.1:n.*58+161_*58+162insAG
ENST00000697197.1:n.2914+161_2914+162insAG
ENST00000228510.8:c.885+161_885+162insAG MANE Select	ENSP00000228510.3:n.885+161_885+162insAG
ENST00000636529.1:c.510+161_510+162insAG
ENST00000636996.1:c.733+161_733+162insAG
ENST00000228510.7:c.885+161_885+162insAG	ENSP00000228510.3:n.885+161_885+162insAG
ENST00000392727.7:c.729+161_729+162insAG	ENSP00000376487.3:n.729+161_729+162insAG
ENST00000447878.6:c.*332+161_*332+162insAG	ENSP00000415555.2:n.*332+161_*332+162insAG
ENST00000537237.5:c.*558+161_*558+162insAG	ENSP00000445382.1:n.*558+161_*558+162insAG
ENST00000539575.4:c.885+161_885+162insAG	ENSP00000443551.2:n.885+161_885+162insAG
ENST00000539696.5:c.42+161_42+162insAG	ENSP00000439134.1:n.42+161_42+162insAG
ENST00000540353.1:n.3118+161_3118+162insAG
ENST00000625889.2:c.729+161_729+162insAG	ENSP00000486846.1:n.729+161_729+162insAG
ENST00000629016.2:c.*332+161_*332+162insAG	ENSP00000486804.1:n.*332+161_*332+162insAG
NM_000431.3:c.885+161_885+162insAG	NP_000422.1:n.885+161_885+162insAG
NM_001114185.2:c.885+161_885+162insAG	NP_001107657.1:n.885+161_885+162insAG
NM_001301182.1:c.729+161_729+162insAG	NP_001288111.1:n.729+161_729+162insAG
XM_011538372.1:c.885+161_885+162insAG	XP_011536674.1:n.885+161_885+162insAG
XM_017019313.2:c.729+161_729+162insAG	XP_016874802.1:n.729+161_729+162insAG
XM_017019314.1:c.885+161_885+162insAG	XP_016874803.1:n.885+161_885+162insAG
XM_024448982.1:c.1046_1047insAG	XP_024304750.1:p.Cys349Ter
NM_000431.4:c.885+161_885+162insAG MANE Select	NP_000422.1:n.885+161_885+162insAG
NM_001114185.3:c.885+161_885+162insAG	NP_001107657.1:n.885+161_885+162insAG
NM_001301182.2:c.729+161_729+162insAG	NP_001288111.1:n.729+161_729+162insAG