Canonical Allele Identifier: CA243452350

Gene: MVK

Linked Data

• dbSNP Id: rs34027285
• MyVariant Identifiers: chr12:g.110013603_110013604insA (hg19) ; chr12:g.109575798_109575799insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109575798_109575799insA , CM000674.2:g.109575798_109575799insA	GRCh38
NC_000012.11:g.110013603_110013604insA , CM000674.1:g.110013603_110013604insA	GRCh37
NC_000012.10:g.108497986_108497987insA	NCBI36
NG_007096.1:g.2699_2700insT
NG_007702.1:g.7104_7105insA , LRG_156:g.7104_7105insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+1925_-92+1926insA	ENSP00000439134.1:n.-92+1925_-92+1926insA
ENST00000546277.6:c.79-200_79-199insA	ENSP00000438153.2:n.79-200_79-199insA
ENST00000636529.2:n.78+898_78+899insA
ENST00000697195.1:c.79-200_79-199insA	ENSP00000513181.1:n.79-200_79-199insA
ENST00000697196.1:c.79-200_79-199insA	ENSP00000513182.1:n.79-200_79-199insA
ENST00000228510.8:c.79-200_79-199insA MANE Select	ENSP00000228510.3:n.79-200_79-199insA
ENST00000636529.1:c.64+898_64+899insA
ENST00000636996.1:c.72-200_72-199insA
ENST00000639206.1:c.79-200_79-199insA	ENSP00000492778.1:n.79-200_79-199insA
ENST00000228510.7:c.79-200_79-199insA	ENSP00000228510.3:n.79-200_79-199insA
ENST00000392727.7:c.79-200_79-199insA	ENSP00000376487.3:n.79-200_79-199insA
ENST00000447878.6:c.79-200_79-199insA	ENSP00000415555.2:n.79-200_79-199insA
ENST00000535044.1:n.324-200_324-199insA
ENST00000537237.5:c.79-200_79-199insA	ENSP00000445382.1:n.79-200_79-199insA
ENST00000539335.5:c.79-200_79-199insA	ENSP00000440379.1:n.79-200_79-199insA
ENST00000539575.4:c.79-200_79-199insA	ENSP00000443551.2:n.79-200_79-199insA
ENST00000539696.5:c.-92+1925_-92+1926insA	ENSP00000439134.1:n.-92+1925_-92+1926insA
ENST00000545774.5:c.79-200_79-199insA	ENSP00000443978.1:n.79-200_79-199insA
ENST00000546277.5:c.79-200_79-199insA	ENSP00000438153.1:n.79-200_79-199insA
ENST00000625889.2:c.79-200_79-199insA	ENSP00000486846.1:n.79-200_79-199insA
ENST00000629016.2:c.79-200_79-199insA	ENSP00000486804.1:n.79-200_79-199insA
NM_000431.3:c.79-200_79-199insA	NP_000422.1:n.79-200_79-199insA
NM_001114185.2:c.79-200_79-199insA	NP_001107657.1:n.79-200_79-199insA
NM_001301182.1:c.79-200_79-199insA	NP_001288111.1:n.79-200_79-199insA
XM_011538372.1:c.79-200_79-199insA	XP_011536674.1:n.79-200_79-199insA
XM_017019313.2:c.79-200_79-199insA	XP_016874802.1:n.79-200_79-199insA
XM_017019314.1:c.79-200_79-199insA	XP_016874803.1:n.79-200_79-199insA
XM_024448982.1:c.79-200_79-199insA	XP_024304750.1:n.79-200_79-199insA
NM_000431.4:c.79-200_79-199insA MANE Select	NP_000422.1:n.79-200_79-199insA
NM_001114185.3:c.79-200_79-199insA	NP_001107657.1:n.79-200_79-199insA
NM_001301182.2:c.79-200_79-199insA	NP_001288111.1:n.79-200_79-199insA