Canonical Allele Identifier: CA2620818873

Gene: MVK

Linked Data

• gnomAD v4: 12-109596360-GAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596362_109596364del , CM000674.2:g.109596362_109596364del	GRCh38
NC_000012.11:g.110034167_110034169del , CM000674.1:g.110034167_110034169del	GRCh37
NC_000012.10:g.108518550_108518552del	NCBI36
NG_007702.1:g.27668_27670del , LRG_156:g.27668_27670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.197-64_197-62del	ENSP00000439134.1:n.197-64_197-62del
ENST00000546277.6:c.1040-64_1040-62del	ENSP00000438153.2:n.1040-64_1040-62del
ENST00000636529.2:n.679-64_679-62del
ENST00000697195.1:c.*804-64_*804-62del	ENSP00000513181.1:n.*804-64_*804-62del
ENST00000697196.1:c.*213-64_*213-62del	ENSP00000513182.1:n.*213-64_*213-62del
ENST00000697197.1:n.3069-64_3069-62del
ENST00000697198.1:n.1424-64_1424-62del
ENST00000228510.8:c.1040-64_1040-62del MANE Select	ENSP00000228510.3:n.1040-64_1040-62del
ENST00000636529.1:c.665-64_665-62del
ENST00000636996.1:c.888-64_888-62del
ENST00000228510.7:c.1040-64_1040-62del	ENSP00000228510.3:n.1040-64_1040-62del
ENST00000392727.7:c.884-64_884-62del	ENSP00000376487.3:n.884-64_884-62del
ENST00000447878.6:c.*487-64_*487-62del	ENSP00000415555.2:n.*487-64_*487-62del
ENST00000537237.5:c.*713-64_*713-62del	ENSP00000445382.1:n.*713-64_*713-62del
ENST00000539575.4:c.1040-64_1040-62del	ENSP00000443551.2:n.1040-64_1040-62del
ENST00000539696.5:c.197-64_197-62del	ENSP00000439134.1:n.197-64_197-62del
ENST00000540353.1:n.3273-64_3273-62del
ENST00000625889.2:c.884-64_884-62del	ENSP00000486846.1:n.884-64_884-62del
ENST00000629016.2:c.*487-64_*487-62del	ENSP00000486804.1:n.*487-64_*487-62del
NM_000431.3:c.1040-64_1040-62del	NP_000422.1:n.1040-64_1040-62del
NM_001114185.2:c.1040-64_1040-62del	NP_001107657.1:n.1040-64_1040-62del
NM_001301182.1:c.884-64_884-62del	NP_001288111.1:n.884-64_884-62del
XM_011538372.1:c.1040-64_1040-62del	XP_011536674.1:n.1040-64_1040-62del
XM_017019313.2:c.884-64_884-62del	XP_016874802.1:n.884-64_884-62del
XM_017019314.1:c.1040-64_1040-62del	XP_016874803.1:n.1040-64_1040-62del
NM_000431.4:c.1040-64_1040-62del MANE Select	NP_000422.1:n.1040-64_1040-62del
NM_001114185.3:c.1040-64_1040-62del	NP_001107657.1:n.1040-64_1040-62del
NM_001301182.2:c.884-64_884-62del	NP_001288111.1:n.884-64_884-62del