Canonical Allele Identifier: CA2514215215

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595566_109595567insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT , CM000674.2:g.109595566_109595567insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	GRCh38
NC_000012.11:g.110033371_110033372insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT , CM000674.1:g.110033371_110033372insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	GRCh37
NC_000012.10:g.108517754_108517755insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	NCBI36
NG_007702.1:g.26872_26873insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT , LRG_156:g.26872_26873insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.196+385_196+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000439134.1:n.196+385_196+386insGGAGCGATTCGGTGTTCTCTGCC...
ENST00000546277.6:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000438153.2:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000636529.2:n.678+385_678+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT
ENST00000697195.1:c.*803+385_*803+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000513181.1:n.*803+385_*803+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000697196.1:c.*212+385_*212+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000513182.1:n.*212+385_*212+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000697197.1:n.3068+385_3068+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT
ENST00000697198.1:n.1423+385_1423+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT
ENST00000228510.8:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT MANE Select	ENSP00000228510.3:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000636529.1:c.664+385_664+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT
ENST00000636996.1:c.887+385_887+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT
ENST00000228510.7:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000228510.3:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000392727.7:c.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000376487.3:n.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCC...
ENST00000447878.6:c.*486+385_*486+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000415555.2:n.*486+385_*486+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000537237.5:c.*712+385_*712+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000445382.1:n.*712+385_*712+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000539575.4:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000443551.2:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTG...
ENST00000539696.5:c.196+385_196+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000439134.1:n.196+385_196+386insGGAGCGATTCGGTGTTCTCTGCC...
ENST00000540353.1:n.3272+385_3272+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT
ENST00000625889.2:c.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000486846.1:n.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCC...
ENST00000629016.2:c.*486+385_*486+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	ENSP00000486804.1:n.*486+385_*486+386insGGAGCGATTCGGTGTTCTCTG...
NM_000431.3:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	NP_000422.1:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAG...
NM_001114185.2:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	NP_001107657.1:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCG...
NM_001301182.1:c.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	NP_001288111.1:n.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCA...
XM_011538372.1:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	XP_011536674.1:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCG...
XM_017019313.2:c.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	XP_016874802.1:n.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCA...
XM_017019314.1:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	XP_016874803.1:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCG...
NM_000431.4:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT MANE Select	NP_000422.1:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAG...
NM_001114185.3:c.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	NP_001107657.1:n.1039+385_1039+386insGGAGCGATTCGGTGTTCTCTGCCG...
NM_001301182.2:c.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCAGTGTT	NP_001288111.1:n.883+385_883+386insGGAGCGATTCGGTGTTCTCTGCCGCA...