Canonical Allele Identifier: CA951707923

Gene: MVK MMAB

Linked Data

• dbSNP Id: rs1884783181
• gnomAD v3: 12-109573841-G-GGGCGGCGGCCGGGGAGGC
• gnomAD v4: 12-109573841-G-GGGCGGCGGCCGGGGAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573851_109573868dup , CM000674.2:g.109573851_109573868dup	GRCh38
NC_000012.11:g.110011656_110011673dup , CM000674.1:g.110011656_110011673dup	GRCh37
NC_000012.10:g.108496039_108496056dup	NCBI36
NG_007096.1:g.4639_4656dup
NG_007702.1:g.5157_5174dup , LRG_156:g.5157_5174dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-114_-97dup (MVK)	ENSP00000439134.1:n.-114_-97dup
ENST00000546277.6:c.-15+280_-15+297dup (MVK)	ENSP00000438153.2:n.-15+280_-15+297dup
ENST00000228510.8:c.-37_-20dup (MVK) MANE Select	ENSP00000228510.3:n.-37_-20dup
ENST00000228510.7:c.-37_-20dup (MVK)	ENSP00000228510.3:n.-37_-20dup
ENST00000392727.7:c.-37_-20dup (MVK)	ENSP00000376487.3:n.-37_-20dup
ENST00000447878.6:c.-37_-20dup (MVK)	ENSP00000415555.2:n.-37_-20dup
ENST00000535044.1:n.231+280_231+297dup (MVK)
ENST00000537237.5:c.-37_-20dup (MVK)	ENSP00000445382.1:n.-37_-20dup
ENST00000539335.5:c.-6+280_-6+297dup (MVK)	ENSP00000440379.1:n.-6+280_-6+297dup
ENST00000539696.5:c.-114_-97dup (MVK)	ENSP00000439134.1:n.-114_-97dup
ENST00000545712.6:c.-379_-362dup (MMAB)	ENSP00000445920.1:n.-379_-362dup
ENST00000545774.5:c.-37_-20dup (MVK)	ENSP00000443978.1:n.-37_-20dup
ENST00000546277.5:c.-15+280_-15+297dup (MVK)	ENSP00000438153.1:n.-15+280_-15+297dup
NM_000431.3:c.-37_-20dup (MVK)	NP_000422.1:n.-37_-20dup
NM_001114185.2:c.-28_-11dup (MVK)	NP_001107657.1:n.-28_-11dup
NM_001301182.1:c.-37_-20dup (MVK)	NP_001288111.1:n.-37_-20dup
XM_011538372.1:c.-15+280_-15+297dup (MVK)	XP_011536674.1:n.-15+280_-15+297dup
XM_017019313.2:c.-15+280_-15+297dup (MVK)	XP_016874802.1:n.-15+280_-15+297dup
XM_024448982.1:c.-15+280_-15+297dup (MVK)	XP_024304750.1:n.-15+280_-15+297dup
NM_000431.4:c.-37_-20dup (MVK) MANE Select	NP_000422.1:n.-37_-20dup
NM_001114185.3:c.-28_-11dup (MVK)	NP_001107657.1:n.-28_-11dup
NM_001301182.2:c.-37_-20dup (MVK)	NP_001288111.1:n.-37_-20dup