Canonical Allele Identifier: CA243452139

Gene: MVK

Linked Data

• dbSNP Id: rs1049582313
• gnomAD v2: 12-110012517-GTTA-G
• gnomAD v3: 12-109574712-GTTA-G
• gnomAD v4: 12-109574712-GTTA-G
• MyVariant Identifiers: chr12:g.110012518_110012520del (hg19) ; chr12:g.109574713_109574715del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574717_109574719del , CM000674.2:g.109574717_109574719del	GRCh38
NC_000012.11:g.110012522_110012524del , CM000674.1:g.110012522_110012524del	GRCh37
NC_000012.10:g.108496905_108496907del	NCBI36
NG_007096.1:g.3783_3785del
NG_007702.1:g.6023_6025del , LRG_156:g.6023_6025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+844_-92+846del	ENSP00000439134.1:n.-92+844_-92+846del
ENST00000546277.6:c.-14-92_-14-90del	ENSP00000438153.2:n.-14-92_-14-90del
ENST00000697195.1:c.-106_-104del	ENSP00000513181.1:n.-106_-104del
ENST00000228510.8:c.-14-92_-14-90del MANE Select	ENSP00000228510.3:n.-14-92_-14-90del
ENST00000228510.7:c.-14-92_-14-90del	ENSP00000228510.3:n.-14-92_-14-90del
ENST00000392727.7:c.-14-92_-14-90del	ENSP00000376487.3:n.-14-92_-14-90del
ENST00000447878.6:c.-14-92_-14-90del	ENSP00000415555.2:n.-14-92_-14-90del
ENST00000535044.1:n.232-92_232-90del
ENST00000537237.5:c.-14-92_-14-90del	ENSP00000445382.1:n.-14-92_-14-90del
ENST00000539335.5:c.-5-101_-5-99del	ENSP00000440379.1:n.-5-101_-5-99del
ENST00000539696.5:c.-92+844_-92+846del	ENSP00000439134.1:n.-92+844_-92+846del
ENST00000545774.5:c.-14-92_-14-90del	ENSP00000443978.1:n.-14-92_-14-90del
ENST00000546277.5:c.-14-92_-14-90del	ENSP00000438153.1:n.-14-92_-14-90del
NM_000431.3:c.-14-92_-14-90del	NP_000422.1:n.-14-92_-14-90del
NM_001114185.2:c.-5-101_-5-99del	NP_001107657.1:n.-5-101_-5-99del
NM_001301182.1:c.-14-92_-14-90del	NP_001288111.1:n.-14-92_-14-90del
XM_011538372.1:c.-14-92_-14-90del	XP_011536674.1:n.-14-92_-14-90del
XM_017019313.2:c.-14-92_-14-90del	XP_016874802.1:n.-14-92_-14-90del
XM_017019314.1:c.-15+42_-15+44del	XP_016874803.1:n.-15+42_-15+44del
XM_024448982.1:c.-14-92_-14-90del	XP_024304750.1:n.-14-92_-14-90del
NM_000431.4:c.-14-92_-14-90del MANE Select	NP_000422.1:n.-14-92_-14-90del
NM_001114185.3:c.-5-101_-5-99del	NP_001107657.1:n.-5-101_-5-99del
NM_001301182.2:c.-14-92_-14-90del	NP_001288111.1:n.-14-92_-14-90del