Canonical Allele Identifier: CA607289542

Gene: MVK

Linked Data

• gnomAD v2: 12-110033967-ACGGCCAGTACAAGGCAAGG-A
• gnomAD v3: 12-109596162-ACGGCCAGTACAAGGCAAGG-A
• gnomAD v4: 12-109596162-ACGGCCAGTACAAGGCAAGG-A
• MyVariant Identifiers: chr12:g.110033968_110033986del (hg19) ; chr12:g.109596163_109596181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596164_109596182del , CM000674.2:g.109596164_109596182del	GRCh38
NC_000012.11:g.110033969_110033987del , CM000674.1:g.110033969_110033987del	GRCh37
NC_000012.10:g.108518352_108518370del	NCBI36
NG_007702.1:g.27470_27488del , LRG_156:g.27470_27488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-262_197-244del	ENSP00000439134.1:n.197-262_197-244del
ENST00000546277.6:c.1040-262_1040-244del	ENSP00000438153.2:n.1040-262_1040-244del
ENST00000636529.2:n.679-262_679-244del
ENST00000697195.1:c.*804-262_*804-244del	ENSP00000513181.1:n.*804-262_*804-244del
ENST00000697196.1:c.*213-262_*213-244del	ENSP00000513182.1:n.*213-262_*213-244del
ENST00000697197.1:n.3069-262_3069-244del
ENST00000697198.1:n.1424-262_1424-244del
ENST00000228510.8:c.1040-262_1040-244del MANE Select	ENSP00000228510.3:n.1040-262_1040-244del
ENST00000636529.1:c.665-262_665-244del
ENST00000636996.1:c.888-262_888-244del
ENST00000228510.7:c.1040-262_1040-244del	ENSP00000228510.3:n.1040-262_1040-244del
ENST00000392727.7:c.884-262_884-244del	ENSP00000376487.3:n.884-262_884-244del
ENST00000447878.6:c.*487-262_*487-244del	ENSP00000415555.2:n.*487-262_*487-244del
ENST00000537237.5:c.*713-262_*713-244del	ENSP00000445382.1:n.*713-262_*713-244del
ENST00000539575.4:c.1040-262_1040-244del	ENSP00000443551.2:n.1040-262_1040-244del
ENST00000539696.5:c.197-262_197-244del	ENSP00000439134.1:n.197-262_197-244del
ENST00000540353.1:n.3273-262_3273-244del
ENST00000625889.2:c.884-262_884-244del	ENSP00000486846.1:n.884-262_884-244del
ENST00000629016.2:c.*487-262_*487-244del	ENSP00000486804.1:n.*487-262_*487-244del
NM_000431.3:c.1040-262_1040-244del	NP_000422.1:n.1040-262_1040-244del
NM_001114185.2:c.1040-262_1040-244del	NP_001107657.1:n.1040-262_1040-244del
NM_001301182.1:c.884-262_884-244del	NP_001288111.1:n.884-262_884-244del
XM_011538372.1:c.1040-262_1040-244del	XP_011536674.1:n.1040-262_1040-244del
XM_017019313.2:c.884-262_884-244del	XP_016874802.1:n.884-262_884-244del
XM_017019314.1:c.1040-262_1040-244del	XP_016874803.1:n.1040-262_1040-244del
NM_000431.4:c.1040-262_1040-244del MANE Select	NP_000422.1:n.1040-262_1040-244del
NM_001114185.3:c.1040-262_1040-244del	NP_001107657.1:n.1040-262_1040-244del
NM_001301182.2:c.884-262_884-244del	NP_001288111.1:n.884-262_884-244del