Canonical Allele Identifier: CA2620812295

Gene: MVK MMAB

Linked Data

• gnomAD v4: 12-109573836-CGGAGGGGCGGCGGCCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573842_109573858del , CM000674.2:g.109573842_109573858del	GRCh38
NC_000012.11:g.110011647_110011663del , CM000674.1:g.110011647_110011663del	GRCh37
NC_000012.10:g.108496030_108496046del	NCBI36
NG_007096.1:g.4645_4661del
NG_007702.1:g.5148_5164del , LRG_156:g.5148_5164del

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-123_-107del (MVK)	ENSP00000439134.1:n.-123_-107del
ENST00000546277.6:c.-15+271_-15+287del (MVK)	ENSP00000438153.2:n.-15+271_-15+287del
ENST00000228510.8:c.-46_-30del (MVK) MANE Select	ENSP00000228510.3:n.-46_-30del
ENST00000228510.7:c.-46_-30del (MVK)	ENSP00000228510.3:n.-46_-30del
ENST00000392727.7:c.-46_-30del (MVK)	ENSP00000376487.3:n.-46_-30del
ENST00000447878.6:c.-46_-30del (MVK)	ENSP00000415555.2:n.-46_-30del
ENST00000535044.1:n.231+271_231+287del (MVK)
ENST00000537237.5:c.-46_-30del (MVK)	ENSP00000445382.1:n.-46_-30del
ENST00000539335.5:c.-6+271_-6+287del (MVK)	ENSP00000440379.1:n.-6+271_-6+287del
ENST00000539696.5:c.-123_-107del (MVK)	ENSP00000439134.1:n.-123_-107del
ENST00000545712.6:c.-373_-357del (MMAB)	ENSP00000445920.1:n.-373_-357del
ENST00000545774.5:c.-46_-30del (MVK)	ENSP00000443978.1:n.-46_-30del
ENST00000546277.5:c.-15+271_-15+287del (MVK)	ENSP00000438153.1:n.-15+271_-15+287del
NM_000431.3:c.-46_-30del (MVK)	NP_000422.1:n.-46_-30del
NM_001114185.2:c.-37_-21del (MVK)	NP_001107657.1:n.-37_-21del
NM_001301182.1:c.-46_-30del (MVK)	NP_001288111.1:n.-46_-30del
XM_011538372.1:c.-15+271_-15+287del (MVK)	XP_011536674.1:n.-15+271_-15+287del
XM_017019313.2:c.-15+271_-15+287del (MVK)	XP_016874802.1:n.-15+271_-15+287del
XM_024448982.1:c.-15+271_-15+287del (MVK)	XP_024304750.1:n.-15+271_-15+287del
NM_000431.4:c.-46_-30del (MVK) MANE Select	NP_000422.1:n.-46_-30del
NM_001114185.3:c.-37_-21del (MVK)	NP_001107657.1:n.-37_-21del
NM_001301182.2:c.-46_-30del (MVK)	NP_001288111.1:n.-46_-30del