Canonical Allele Identifier: CA683459059

Gene: MVK

Linked Data

• dbSNP Id: rs1232585877
• gnomAD v3: 12-109596123-CTG-C
• gnomAD v4: 12-109596123-CTG-C
• MyVariant Identifiers: chr12:g.110033929_110033930del (hg19) ; chr12:g.109596124_109596125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596124_109596125del , CM000674.2:g.109596124_109596125del	GRCh38
NC_000012.11:g.110033929_110033930del , CM000674.1:g.110033929_110033930del	GRCh37
NC_000012.10:g.108518312_108518313del	NCBI36
NG_007702.1:g.27430_27431del , LRG_156:g.27430_27431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-302_197-301del	ENSP00000439134.1:n.197-302_197-301del
ENST00000546277.6:c.1040-302_1040-301del	ENSP00000438153.2:n.1040-302_1040-301del
ENST00000636529.2:n.679-302_679-301del
ENST00000697195.1:c.*804-302_*804-301del	ENSP00000513181.1:n.*804-302_*804-301del
ENST00000697196.1:c.*213-302_*213-301del	ENSP00000513182.1:n.*213-302_*213-301del
ENST00000697197.1:n.3069-302_3069-301del
ENST00000697198.1:n.1424-302_1424-301del
ENST00000228510.8:c.1040-302_1040-301del MANE Select	ENSP00000228510.3:n.1040-302_1040-301del
ENST00000636529.1:c.665-302_665-301del
ENST00000636996.1:c.888-302_888-301del
ENST00000228510.7:c.1040-302_1040-301del	ENSP00000228510.3:n.1040-302_1040-301del
ENST00000392727.7:c.884-302_884-301del	ENSP00000376487.3:n.884-302_884-301del
ENST00000447878.6:c.*487-302_*487-301del	ENSP00000415555.2:n.*487-302_*487-301del
ENST00000537237.5:c.*713-302_*713-301del	ENSP00000445382.1:n.*713-302_*713-301del
ENST00000539575.4:c.1040-302_1040-301del	ENSP00000443551.2:n.1040-302_1040-301del
ENST00000539696.5:c.197-302_197-301del	ENSP00000439134.1:n.197-302_197-301del
ENST00000540353.1:n.3273-302_3273-301del
ENST00000625889.2:c.884-302_884-301del	ENSP00000486846.1:n.884-302_884-301del
ENST00000629016.2:c.*487-302_*487-301del	ENSP00000486804.1:n.*487-302_*487-301del
NM_000431.3:c.1040-302_1040-301del	NP_000422.1:n.1040-302_1040-301del
NM_001114185.2:c.1040-302_1040-301del	NP_001107657.1:n.1040-302_1040-301del
NM_001301182.1:c.884-302_884-301del	NP_001288111.1:n.884-302_884-301del
XM_011538372.1:c.1040-302_1040-301del	XP_011536674.1:n.1040-302_1040-301del
XM_017019313.2:c.884-302_884-301del	XP_016874802.1:n.884-302_884-301del
XM_017019314.1:c.1040-302_1040-301del	XP_016874803.1:n.1040-302_1040-301del
NM_000431.4:c.1040-302_1040-301del MANE Select	NP_000422.1:n.1040-302_1040-301del
NM_001114185.3:c.1040-302_1040-301del	NP_001107657.1:n.1040-302_1040-301del
NM_001301182.2:c.884-302_884-301del	NP_001288111.1:n.884-302_884-301del