Canonical Allele Identifier: CA2740090819

Gene: MVK

Linked Data

• ClinVar Variation Id: 2930612
• ClinVar RCV Id: RCV003789922

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596420_109596421delinsGG , CM000674.2:g.109596420_109596421delinsGG	GRCh38
NC_000012.11:g.110034225_110034226delinsGG , CM000674.1:g.110034225_110034226delinsGG	GRCh37
NC_000012.10:g.108518608_108518609delinsGG	NCBI36
NG_007702.1:g.27726_27727delinsGG , LRG_156:g.27726_27727delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-6_197-5delinsGG	ENSP00000439134.1:n.197-6_197-5delinsGG
ENST00000546277.6:c.1040-6_1040-5delinsGG	ENSP00000438153.2:n.1040-6_1040-5delinsGG
ENST00000636529.2:n.679-6_679-5delinsGG
ENST00000697195.1:c.*804-6_*804-5delinsGG	ENSP00000513181.1:n.*804-6_*804-5delinsGG
ENST00000697196.1:c.*213-6_*213-5delinsGG	ENSP00000513182.1:n.*213-6_*213-5delinsGG
ENST00000697197.1:n.3069-6_3069-5delinsGG
ENST00000697198.1:n.1424-6_1424-5delinsGG
ENST00000228510.8:c.1040-6_1040-5delinsGG MANE Select	ENSP00000228510.3:n.1040-6_1040-5delinsGG
ENST00000636529.1:c.665-6_665-5delinsGG
ENST00000636996.1:c.888-6_888-5delinsGG
ENST00000228510.7:c.1040-6_1040-5delinsGG	ENSP00000228510.3:n.1040-6_1040-5delinsGG
ENST00000392727.7:c.884-6_884-5delinsGG	ENSP00000376487.3:n.884-6_884-5delinsGG
ENST00000447878.6:c.*487-6_*487-5delinsGG	ENSP00000415555.2:n.*487-6_*487-5delinsGG
ENST00000537237.5:c.*713-6_*713-5delinsGG	ENSP00000445382.1:n.*713-6_*713-5delinsGG
ENST00000539575.4:c.1040-6_1040-5delinsGG	ENSP00000443551.2:n.1040-6_1040-5delinsGG
ENST00000539696.5:c.197-6_197-5delinsGG	ENSP00000439134.1:n.197-6_197-5delinsGG
ENST00000540353.1:n.3273-6_3273-5delinsGG
ENST00000625889.2:c.884-6_884-5delinsGG	ENSP00000486846.1:n.884-6_884-5delinsGG
ENST00000629016.2:c.*487-6_*487-5delinsGG	ENSP00000486804.1:n.*487-6_*487-5delinsGG
NM_000431.3:c.1040-6_1040-5delinsGG	NP_000422.1:n.1040-6_1040-5delinsGG
NM_001114185.2:c.1040-6_1040-5delinsGG	NP_001107657.1:n.1040-6_1040-5delinsGG
NM_001301182.1:c.884-6_884-5delinsGG	NP_001288111.1:n.884-6_884-5delinsGG
XM_011538372.1:c.1040-6_1040-5delinsGG	XP_011536674.1:n.1040-6_1040-5delinsGG
XM_017019313.2:c.884-6_884-5delinsGG	XP_016874802.1:n.884-6_884-5delinsGG
XM_017019314.1:c.1040-6_1040-5delinsGG	XP_016874803.1:n.1040-6_1040-5delinsGG
NM_000431.4:c.1040-6_1040-5delinsGG MANE Select	NP_000422.1:n.1040-6_1040-5delinsGG
NM_001114185.3:c.1040-6_1040-5delinsGG	NP_001107657.1:n.1040-6_1040-5delinsGG
NM_001301182.2:c.884-6_884-5delinsGG	NP_001288111.1:n.884-6_884-5delinsGG