Canonical Allele Identifier: CA2062459386

Gene: MVK MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573856_109573862delinsAGGCGGC , CM000674.2:g.109573856_109573862delinsAGGCGGC	GRCh38
NC_000012.11:g.110011661_110011667delinsAGGCGGC , CM000674.1:g.110011661_110011667delinsAGGCGGC	GRCh37
NC_000012.10:g.108496044_108496050delinsAGGCGGC	NCBI36
NG_007096.1:g.4636_4642delinsGCCGCCT
NG_007702.1:g.5162_5168delinsAGGCGGC , LRG_156:g.5162_5168delinsAGGCGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-109_-103delinsAGGCGGC (MVK)	ENSP00000439134.1:n.-109_-103delinsAGGCGG...
ENST00000546277.6:c.-15+285_-15+291delinsAGGCGGC (MVK)	ENSP00000438153.2:n.-15+285_-15+291delins...
ENST00000228510.8:c.-32_-26delinsAGGCGGC (MVK) MANE Select	ENSP00000228510.3:n.-32_-26delinsAGGCGGC
ENST00000228510.7:c.-32_-26delinsAGGCGGC (MVK)	ENSP00000228510.3:n.-32_-26delinsAGGCGGC
ENST00000392727.7:c.-32_-26delinsAGGCGGC (MVK)	ENSP00000376487.3:n.-32_-26delinsAGGCGGC
ENST00000447878.6:c.-32_-26delinsAGGCGGC (MVK)	ENSP00000415555.2:n.-32_-26delinsAGGCGGC
ENST00000535044.1:n.231+285_231+291delinsAGGCGGC (MVK)
ENST00000537237.5:c.-32_-26delinsAGGCGGC (MVK)	ENSP00000445382.1:n.-32_-26delinsAGGCGGC
ENST00000539335.5:c.-6+285_-6+291delinsAGGCGGC (MVK)	ENSP00000440379.1:n.-6+285_-6+291delinsAG...
ENST00000539696.5:c.-109_-103delinsAGGCGGC (MVK)	ENSP00000439134.1:n.-109_-103delinsAGGCGG...
ENST00000545712.6:c.-382_-376delinsGCCGCCT (MMAB)	ENSP00000445920.1:n.-382_-376delinsGCCGCC...
ENST00000545774.5:c.-32_-26delinsAGGCGGC (MVK)	ENSP00000443978.1:n.-32_-26delinsAGGCGGC
ENST00000546277.5:c.-15+285_-15+291delinsAGGCGGC (MVK)	ENSP00000438153.1:n.-15+285_-15+291delins...
NM_000431.3:c.-32_-26delinsAGGCGGC (MVK)	NP_000422.1:n.-32_-26delinsAGGCGGC
NM_001114185.2:c.-23_-17delinsAGGCGGC (MVK)	NP_001107657.1:n.-23_-17delinsAGGCGGC
NM_001301182.1:c.-32_-26delinsAGGCGGC (MVK)	NP_001288111.1:n.-32_-26delinsAGGCGGC
XM_011538372.1:c.-15+285_-15+291delinsAGGCGGC (MVK)	XP_011536674.1:n.-15+285_-15+291delinsAGG...
XM_017019313.2:c.-15+285_-15+291delinsAGGCGGC (MVK)	XP_016874802.1:n.-15+285_-15+291delinsAGG...
XM_024448982.1:c.-15+285_-15+291delinsAGGCGGC (MVK)	XP_024304750.1:n.-15+285_-15+291delinsAGG...
NM_000431.4:c.-32_-26delinsAGGCGGC (MVK) MANE Select	NP_000422.1:n.-32_-26delinsAGGCGGC
NM_001114185.3:c.-23_-17delinsAGGCGGC (MVK)	NP_001107657.1:n.-23_-17delinsAGGCGGC
NM_001301182.2:c.-32_-26delinsAGGCGGC (MVK)	NP_001288111.1:n.-32_-26delinsAGGCGGC