Canonical Allele Identifier: CA683458216

Gene: MVK

Linked Data

• dbSNP Id: rs1314809367
• gnomAD v3: 12-109594961-CAG-C
• gnomAD v4: 12-109594961-CAG-C
• MyVariant Identifiers: chr12:g.110032767_110032768del (hg19) ; chr12:g.109594962_109594963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109594962_109594963del , CM000674.2:g.109594962_109594963del	GRCh38
NC_000012.11:g.110032767_110032768del , CM000674.1:g.110032767_110032768del	GRCh37
NC_000012.10:g.108517150_108517151del	NCBI36
NG_007702.1:g.26268_26269del , LRG_156:g.26268_26269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.43-66_43-65del	ENSP00000439134.1:n.43-66_43-65del
ENST00000546277.6:c.886-66_886-65del	ENSP00000438153.2:n.886-66_886-65del
ENST00000636529.2:n.525-66_525-65del
ENST00000697195.1:c.*650-66_*650-65del	ENSP00000513181.1:n.*650-66_*650-65del
ENST00000697196.1:c.*59-66_*59-65del	ENSP00000513182.1:n.*59-66_*59-65del
ENST00000697197.1:n.2915-66_2915-65del
ENST00000697198.1:n.1204_1205del
ENST00000228510.8:c.886-66_886-65del MANE Select	ENSP00000228510.3:n.886-66_886-65del
ENST00000636529.1:c.511-66_511-65del
ENST00000636996.1:c.734-66_734-65del
ENST00000228510.7:c.886-66_886-65del	ENSP00000228510.3:n.886-66_886-65del
ENST00000392727.7:c.730-66_730-65del	ENSP00000376487.3:n.730-66_730-65del
ENST00000447878.6:c.*333-66_*333-65del	ENSP00000415555.2:n.*333-66_*333-65del
ENST00000537237.5:c.*559-66_*559-65del	ENSP00000445382.1:n.*559-66_*559-65del
ENST00000539575.4:c.886-66_886-65del	ENSP00000443551.2:n.886-66_886-65del
ENST00000539696.5:c.43-66_43-65del	ENSP00000439134.1:n.43-66_43-65del
ENST00000540353.1:n.3119-66_3119-65del
ENST00000625889.2:c.730-66_730-65del	ENSP00000486846.1:n.730-66_730-65del
ENST00000629016.2:c.*333-66_*333-65del	ENSP00000486804.1:n.*333-66_*333-65del
NM_000431.3:c.886-66_886-65del	NP_000422.1:n.886-66_886-65del
NM_001114185.2:c.886-66_886-65del	NP_001107657.1:n.886-66_886-65del
NM_001301182.1:c.730-66_730-65del	NP_001288111.1:n.730-66_730-65del
XM_011538372.1:c.886-66_886-65del	XP_011536674.1:n.886-66_886-65del
XM_017019313.2:c.730-66_730-65del	XP_016874802.1:n.730-66_730-65del
XM_017019314.1:c.886-66_886-65del	XP_016874803.1:n.886-66_886-65del
NM_000431.4:c.886-66_886-65del MANE Select	NP_000422.1:n.886-66_886-65del
NM_001114185.3:c.886-66_886-65del	NP_001107657.1:n.886-66_886-65del
NM_001301182.2:c.730-66_730-65del	NP_001288111.1:n.730-66_730-65del