Canonical Allele Identifier: CA2797399548

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591537_109591538insACC , CM000674.2:g.109591537_109591538insACC	GRCh38
NC_000012.11:g.110029342_110029343insACC , CM000674.1:g.110029342_110029343insACC	GRCh37
NC_000012.10:g.108513725_108513726insACC	NCBI36
NG_007702.1:g.22843_22844insACC , LRG_156:g.22843_22844insACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+180_42+181insACC	ENSP00000439134.1:n.42+180_42+181insACC
ENST00000546277.6:c.885+180_885+181insACC	ENSP00000438153.2:n.885+180_885+181insACC
ENST00000636529.2:n.524+180_524+181insACC
ENST00000697195.1:c.*649+180_*649+181insACC	ENSP00000513181.1:n.*649+180_*649+181insACC
ENST00000697196.1:c.*58+180_*58+181insACC	ENSP00000513182.1:n.*58+180_*58+181insACC
ENST00000697197.1:n.2914+180_2914+181insACC
ENST00000228510.8:c.885+180_885+181insACC MANE Select	ENSP00000228510.3:n.885+180_885+181insACC
ENST00000636529.1:c.510+180_510+181insACC
ENST00000636996.1:c.733+180_733+181insACC
ENST00000228510.7:c.885+180_885+181insACC	ENSP00000228510.3:n.885+180_885+181insACC
ENST00000392727.7:c.729+180_729+181insACC	ENSP00000376487.3:n.729+180_729+181insACC
ENST00000447878.6:c.*332+180_*332+181insACC	ENSP00000415555.2:n.*332+180_*332+181insACC
ENST00000537237.5:c.*558+180_*558+181insACC	ENSP00000445382.1:n.*558+180_*558+181insACC
ENST00000539575.4:c.885+180_885+181insACC	ENSP00000443551.2:n.885+180_885+181insACC
ENST00000539696.5:c.42+180_42+181insACC	ENSP00000439134.1:n.42+180_42+181insACC
ENST00000540353.1:n.3118+180_3118+181insACC
ENST00000625889.2:c.729+180_729+181insACC	ENSP00000486846.1:n.729+180_729+181insACC
ENST00000629016.2:c.*332+180_*332+181insACC	ENSP00000486804.1:n.*332+180_*332+181insACC
NM_000431.3:c.885+180_885+181insACC	NP_000422.1:n.885+180_885+181insACC
NM_001114185.2:c.885+180_885+181insACC	NP_001107657.1:n.885+180_885+181insACC
NM_001301182.1:c.729+180_729+181insACC	NP_001288111.1:n.729+180_729+181insACC
XM_011538372.1:c.885+180_885+181insACC	XP_011536674.1:n.885+180_885+181insACC
XM_017019313.2:c.729+180_729+181insACC	XP_016874802.1:n.729+180_729+181insACC
XM_017019314.1:c.885+180_885+181insACC	XP_016874803.1:n.885+180_885+181insACC
XM_024448982.1:c.1065_1066insACC	XP_024304750.1:p.Tyr355_Phe356insThr
NM_000431.4:c.885+180_885+181insACC MANE Select	NP_000422.1:n.885+180_885+181insACC
NM_001114185.3:c.885+180_885+181insACC	NP_001107657.1:n.885+180_885+181insACC
NM_001301182.2:c.729+180_729+181insACC	NP_001288111.1:n.729+180_729+181insACC