Canonical Allele Identifier: CA2797399552

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591540_109591541insA , CM000674.2:g.109591540_109591541insA	GRCh38
NC_000012.11:g.110029345_110029346insA , CM000674.1:g.110029345_110029346insA	GRCh37
NC_000012.10:g.108513728_108513729insA	NCBI36
NG_007702.1:g.22846_22847insA , LRG_156:g.22846_22847insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+183_42+184insA	ENSP00000439134.1:n.42+183_42+184insA
ENST00000546277.6:c.885+183_885+184insA	ENSP00000438153.2:n.885+183_885+184insA
ENST00000636529.2:n.524+183_524+184insA
ENST00000697195.1:c.*649+183_*649+184insA	ENSP00000513181.1:n.*649+183_*649+184insA
ENST00000697196.1:c.*58+183_*58+184insA	ENSP00000513182.1:n.*58+183_*58+184insA
ENST00000697197.1:n.2914+183_2914+184insA
ENST00000228510.8:c.885+183_885+184insA MANE Select	ENSP00000228510.3:n.885+183_885+184insA
ENST00000636529.1:c.510+183_510+184insA
ENST00000636996.1:c.733+183_733+184insA
ENST00000228510.7:c.885+183_885+184insA	ENSP00000228510.3:n.885+183_885+184insA
ENST00000392727.7:c.729+183_729+184insA	ENSP00000376487.3:n.729+183_729+184insA
ENST00000447878.6:c.*332+183_*332+184insA	ENSP00000415555.2:n.*332+183_*332+184insA
ENST00000537237.5:c.*558+183_*558+184insA	ENSP00000445382.1:n.*558+183_*558+184insA
ENST00000539575.4:c.885+183_885+184insA	ENSP00000443551.2:n.885+183_885+184insA
ENST00000539696.5:c.42+183_42+184insA	ENSP00000439134.1:n.42+183_42+184insA
ENST00000540353.1:n.3118+183_3118+184insA
ENST00000625889.2:c.729+183_729+184insA	ENSP00000486846.1:n.729+183_729+184insA
ENST00000629016.2:c.*332+183_*332+184insA	ENSP00000486804.1:n.*332+183_*332+184insA
NM_000431.3:c.885+183_885+184insA	NP_000422.1:n.885+183_885+184insA
NM_001114185.2:c.885+183_885+184insA	NP_001107657.1:n.885+183_885+184insA
NM_001301182.1:c.729+183_729+184insA	NP_001288111.1:n.729+183_729+184insA
XM_011538372.1:c.885+183_885+184insA	XP_011536674.1:n.885+183_885+184insA
XM_017019313.2:c.729+183_729+184insA	XP_016874802.1:n.729+183_729+184insA
XM_017019314.1:c.885+183_885+184insA	XP_016874803.1:n.885+183_885+184insA
XM_024448982.1:c.1068_1069insA	XP_024304750.1:p.Gln357ThrfsTer10
NM_000431.4:c.885+183_885+184insA MANE Select	NP_000422.1:n.885+183_885+184insA
NM_001114185.3:c.885+183_885+184insA	NP_001107657.1:n.885+183_885+184insA
NM_001301182.2:c.729+183_729+184insA	NP_001288111.1:n.729+183_729+184insA