Canonical Allele Identifier: CA683459055

Gene: MVK

Linked Data

• dbSNP Id: rs1291410485
• gnomAD v3: 12-109596118-GGAGACT-G
• gnomAD v4: 12-109596118-GGAGACT-G
• MyVariant Identifiers: chr12:g.110033924_110033929del (hg19) ; chr12:g.109596119_109596124del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596129_109596134del , CM000674.2:g.109596129_109596134del	GRCh38
NC_000012.11:g.110033934_110033939del , CM000674.1:g.110033934_110033939del	GRCh37
NC_000012.10:g.108518317_108518322del	NCBI36
NG_007702.1:g.27435_27440del , LRG_156:g.27435_27440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-297_197-292del	ENSP00000439134.1:n.197-297_197-292del
ENST00000546277.6:c.1040-297_1040-292del	ENSP00000438153.2:n.1040-297_1040-292del
ENST00000636529.2:n.679-297_679-292del
ENST00000697195.1:c.*804-297_*804-292del	ENSP00000513181.1:n.*804-297_*804-292del
ENST00000697196.1:c.*213-297_*213-292del	ENSP00000513182.1:n.*213-297_*213-292del
ENST00000697197.1:n.3069-297_3069-292del
ENST00000697198.1:n.1424-297_1424-292del
ENST00000228510.8:c.1040-297_1040-292del MANE Select	ENSP00000228510.3:n.1040-297_1040-292del
ENST00000636529.1:c.665-297_665-292del
ENST00000636996.1:c.888-297_888-292del
ENST00000228510.7:c.1040-297_1040-292del	ENSP00000228510.3:n.1040-297_1040-292del
ENST00000392727.7:c.884-297_884-292del	ENSP00000376487.3:n.884-297_884-292del
ENST00000447878.6:c.*487-297_*487-292del	ENSP00000415555.2:n.*487-297_*487-292del
ENST00000537237.5:c.*713-297_*713-292del	ENSP00000445382.1:n.*713-297_*713-292del
ENST00000539575.4:c.1040-297_1040-292del	ENSP00000443551.2:n.1040-297_1040-292del
ENST00000539696.5:c.197-297_197-292del	ENSP00000439134.1:n.197-297_197-292del
ENST00000540353.1:n.3273-297_3273-292del
ENST00000625889.2:c.884-297_884-292del	ENSP00000486846.1:n.884-297_884-292del
ENST00000629016.2:c.*487-297_*487-292del	ENSP00000486804.1:n.*487-297_*487-292del
NM_000431.3:c.1040-297_1040-292del	NP_000422.1:n.1040-297_1040-292del
NM_001114185.2:c.1040-297_1040-292del	NP_001107657.1:n.1040-297_1040-292del
NM_001301182.1:c.884-297_884-292del	NP_001288111.1:n.884-297_884-292del
XM_011538372.1:c.1040-297_1040-292del	XP_011536674.1:n.1040-297_1040-292del
XM_017019313.2:c.884-297_884-292del	XP_016874802.1:n.884-297_884-292del
XM_017019314.1:c.1040-297_1040-292del	XP_016874803.1:n.1040-297_1040-292del
NM_000431.4:c.1040-297_1040-292del MANE Select	NP_000422.1:n.1040-297_1040-292del
NM_001114185.3:c.1040-297_1040-292del	NP_001107657.1:n.1040-297_1040-292del
NM_001301182.2:c.884-297_884-292del	NP_001288111.1:n.884-297_884-292del