Canonical Allele Identifier: CA2501299402

Gene: MVK

Linked Data

• gnomAD v3: 12-109596067-G-GATACGGCGA
• gnomAD v4: 12-109596067-G-GATACGGCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596067_109596068insATACGGCGA , CM000674.2:g.109596067_109596068insATACGGCGA	GRCh38
NC_000012.11:g.110033872_110033873insATACGGCGA , CM000674.1:g.110033872_110033873insATACGGCGA	GRCh37
NC_000012.10:g.108518255_108518256insATACGGCGA	NCBI36
NG_007702.1:g.27373_27374insATACGGCGA , LRG_156:g.27373_27374insATACGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-359_197-358insATACGGCGA	ENSP00000439134.1:n.197-359_197-358insATACGGCGA
ENST00000546277.6:c.1040-359_1040-358insATACGGCGA	ENSP00000438153.2:n.1040-359_1040-358insATACGGCGA
ENST00000636529.2:n.679-359_679-358insATACGGCGA
ENST00000697195.1:c.*804-359_*804-358insATACGGCGA	ENSP00000513181.1:n.*804-359_*804-358insATACGGCGA
ENST00000697196.1:c.*213-359_*213-358insATACGGCGA	ENSP00000513182.1:n.*213-359_*213-358insATACGGCGA
ENST00000697197.1:n.3069-359_3069-358insATACGGCGA
ENST00000697198.1:n.1424-359_1424-358insATACGGCGA
ENST00000228510.8:c.1040-359_1040-358insATACGGCGA MANE Select	ENSP00000228510.3:n.1040-359_1040-358insATACGGCGA
ENST00000636529.1:c.665-359_665-358insATACGGCGA
ENST00000636996.1:c.888-359_888-358insATACGGCGA
ENST00000228510.7:c.1040-359_1040-358insATACGGCGA	ENSP00000228510.3:n.1040-359_1040-358insATACGGCGA
ENST00000392727.7:c.884-359_884-358insATACGGCGA	ENSP00000376487.3:n.884-359_884-358insATACGGCGA
ENST00000447878.6:c.*487-359_*487-358insATACGGCGA	ENSP00000415555.2:n.*487-359_*487-358insATACGGCGA
ENST00000537237.5:c.*713-359_*713-358insATACGGCGA	ENSP00000445382.1:n.*713-359_*713-358insATACGGCGA
ENST00000539575.4:c.1040-359_1040-358insATACGGCGA	ENSP00000443551.2:n.1040-359_1040-358insATACGGCGA
ENST00000539696.5:c.197-359_197-358insATACGGCGA	ENSP00000439134.1:n.197-359_197-358insATACGGCGA
ENST00000540353.1:n.3273-359_3273-358insATACGGCGA
ENST00000625889.2:c.884-359_884-358insATACGGCGA	ENSP00000486846.1:n.884-359_884-358insATACGGCGA
ENST00000629016.2:c.*487-359_*487-358insATACGGCGA	ENSP00000486804.1:n.*487-359_*487-358insATACGGCGA
NM_000431.3:c.1040-359_1040-358insATACGGCGA	NP_000422.1:n.1040-359_1040-358insATACGGCGA
NM_001114185.2:c.1040-359_1040-358insATACGGCGA	NP_001107657.1:n.1040-359_1040-358insATACGGCGA
NM_001301182.1:c.884-359_884-358insATACGGCGA	NP_001288111.1:n.884-359_884-358insATACGGCGA
XM_011538372.1:c.1040-359_1040-358insATACGGCGA	XP_011536674.1:n.1040-359_1040-358insATACGGCGA
XM_017019313.2:c.884-359_884-358insATACGGCGA	XP_016874802.1:n.884-359_884-358insATACGGCGA
XM_017019314.1:c.1040-359_1040-358insATACGGCGA	XP_016874803.1:n.1040-359_1040-358insATACGGCGA
NM_000431.4:c.1040-359_1040-358insATACGGCGA MANE Select	NP_000422.1:n.1040-359_1040-358insATACGGCGA
NM_001114185.3:c.1040-359_1040-358insATACGGCGA	NP_001107657.1:n.1040-359_1040-358insATACGGCGA
NM_001301182.2:c.884-359_884-358insATACGGCGA	NP_001288111.1:n.884-359_884-358insATACGGCGA