Canonical Allele Identifier: CA2797414477

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595327_109595328insAC , CM000674.2:g.109595327_109595328insAC	GRCh38
NC_000012.11:g.110033132_110033133insAC , CM000674.1:g.110033132_110033133insAC	GRCh37
NC_000012.10:g.108517515_108517516insAC	NCBI36
NG_007702.1:g.26633_26634insAC , LRG_156:g.26633_26634insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.196+146_196+147insAC	ENSP00000439134.1:n.196+146_196+147insAC
ENST00000546277.6:c.1039+146_1039+147insAC	ENSP00000438153.2:n.1039+146_1039+147insAC
ENST00000636529.2:n.678+146_678+147insAC
ENST00000697195.1:c.*803+146_*803+147insAC	ENSP00000513181.1:n.*803+146_*803+147insAC
ENST00000697196.1:c.*212+146_*212+147insAC	ENSP00000513182.1:n.*212+146_*212+147insAC
ENST00000697197.1:n.3068+146_3068+147insAC
ENST00000697198.1:n.1423+146_1423+147insAC
ENST00000228510.8:c.1039+146_1039+147insAC MANE Select	ENSP00000228510.3:n.1039+146_1039+147insAC
ENST00000636529.1:c.664+146_664+147insAC
ENST00000636996.1:c.887+146_887+147insAC
ENST00000228510.7:c.1039+146_1039+147insAC	ENSP00000228510.3:n.1039+146_1039+147insAC
ENST00000392727.7:c.883+146_883+147insAC	ENSP00000376487.3:n.883+146_883+147insAC
ENST00000447878.6:c.*486+146_*486+147insAC	ENSP00000415555.2:n.*486+146_*486+147insAC
ENST00000537237.5:c.*712+146_*712+147insAC	ENSP00000445382.1:n.*712+146_*712+147insAC
ENST00000539575.4:c.1039+146_1039+147insAC	ENSP00000443551.2:n.1039+146_1039+147insAC
ENST00000539696.5:c.196+146_196+147insAC	ENSP00000439134.1:n.196+146_196+147insAC
ENST00000540353.1:n.3272+146_3272+147insAC
ENST00000625889.2:c.883+146_883+147insAC	ENSP00000486846.1:n.883+146_883+147insAC
ENST00000629016.2:c.*486+146_*486+147insAC	ENSP00000486804.1:n.*486+146_*486+147insAC
NM_000431.3:c.1039+146_1039+147insAC	NP_000422.1:n.1039+146_1039+147insAC
NM_001114185.2:c.1039+146_1039+147insAC	NP_001107657.1:n.1039+146_1039+147insAC
NM_001301182.1:c.883+146_883+147insAC	NP_001288111.1:n.883+146_883+147insAC
XM_011538372.1:c.1039+146_1039+147insAC	XP_011536674.1:n.1039+146_1039+147insAC
XM_017019313.2:c.883+146_883+147insAC	XP_016874802.1:n.883+146_883+147insAC
XM_017019314.1:c.1039+146_1039+147insAC	XP_016874803.1:n.1039+146_1039+147insAC
NM_000431.4:c.1039+146_1039+147insAC MANE Select	NP_000422.1:n.1039+146_1039+147insAC
NM_001114185.3:c.1039+146_1039+147insAC	NP_001107657.1:n.1039+146_1039+147insAC
NM_001301182.2:c.883+146_883+147insAC	NP_001288111.1:n.883+146_883+147insAC