Canonical Allele Identifier: CA2533617928

Gene: MVK

Linked Data

• gnomAD v3: 12-109596072-CCT-C
• gnomAD v4: 12-109596072-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596073_109596074del , CM000674.2:g.109596073_109596074del	GRCh38
NC_000012.11:g.110033878_110033879del , CM000674.1:g.110033878_110033879del	GRCh37
NC_000012.10:g.108518261_108518262del	NCBI36
NG_007702.1:g.27379_27380del , LRG_156:g.27379_27380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.197-353_197-352del	ENSP00000439134.1:n.197-353_197-352del
ENST00000546277.6:c.1040-353_1040-352del	ENSP00000438153.2:n.1040-353_1040-352del
ENST00000636529.2:n.679-353_679-352del
ENST00000697195.1:c.*804-353_*804-352del	ENSP00000513181.1:n.*804-353_*804-352del
ENST00000697196.1:c.*213-353_*213-352del	ENSP00000513182.1:n.*213-353_*213-352del
ENST00000697197.1:n.3069-353_3069-352del
ENST00000697198.1:n.1424-353_1424-352del
ENST00000228510.8:c.1040-353_1040-352del MANE Select	ENSP00000228510.3:n.1040-353_1040-352del
ENST00000636529.1:c.665-353_665-352del
ENST00000636996.1:c.888-353_888-352del
ENST00000228510.7:c.1040-353_1040-352del	ENSP00000228510.3:n.1040-353_1040-352del
ENST00000392727.7:c.884-353_884-352del	ENSP00000376487.3:n.884-353_884-352del
ENST00000447878.6:c.*487-353_*487-352del	ENSP00000415555.2:n.*487-353_*487-352del
ENST00000537237.5:c.*713-353_*713-352del	ENSP00000445382.1:n.*713-353_*713-352del
ENST00000539575.4:c.1040-353_1040-352del	ENSP00000443551.2:n.1040-353_1040-352del
ENST00000539696.5:c.197-353_197-352del	ENSP00000439134.1:n.197-353_197-352del
ENST00000540353.1:n.3273-353_3273-352del
ENST00000625889.2:c.884-353_884-352del	ENSP00000486846.1:n.884-353_884-352del
ENST00000629016.2:c.*487-353_*487-352del	ENSP00000486804.1:n.*487-353_*487-352del
NM_000431.3:c.1040-353_1040-352del	NP_000422.1:n.1040-353_1040-352del
NM_001114185.2:c.1040-353_1040-352del	NP_001107657.1:n.1040-353_1040-352del
NM_001301182.1:c.884-353_884-352del	NP_001288111.1:n.884-353_884-352del
XM_011538372.1:c.1040-353_1040-352del	XP_011536674.1:n.1040-353_1040-352del
XM_017019313.2:c.884-353_884-352del	XP_016874802.1:n.884-353_884-352del
XM_017019314.1:c.1040-353_1040-352del	XP_016874803.1:n.1040-353_1040-352del
NM_000431.4:c.1040-353_1040-352del MANE Select	NP_000422.1:n.1040-353_1040-352del
NM_001114185.3:c.1040-353_1040-352del	NP_001107657.1:n.1040-353_1040-352del
NM_001301182.2:c.884-353_884-352del	NP_001288111.1:n.884-353_884-352del