Canonical Allele Identifier: CA951707914

Gene: MVK MMAB

Linked Data

• dbSNP Id: rs1884781191
• gnomAD v3: 12-109573830-TCGGCGCGGAGGGGCGGCGGCCGGGGAGGCGG-T
• gnomAD v4: 12-109573830-TCGGCGCGGAGGGGCGGCGGCCGGGGAGGCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573836_109573866del , CM000674.2:g.109573836_109573866del	GRCh38
NC_000012.11:g.110011641_110011671del , CM000674.1:g.110011641_110011671del	GRCh37
NC_000012.10:g.108496024_108496054del	NCBI36
NG_007096.1:g.4637_4667del
NG_007702.1:g.5142_5172del , LRG_156:g.5142_5172del

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-129_-99del (MVK)	ENSP00000439134.1:n.-129_-99del
ENST00000546277.6:c.-15+265_-15+295del (MVK)	ENSP00000438153.2:n.-15+265_-15+295del
ENST00000228510.8:c.-52_-22del (MVK) MANE Select	ENSP00000228510.3:n.-52_-22del
ENST00000228510.7:c.-52_-22del (MVK)	ENSP00000228510.3:n.-52_-22del
ENST00000447878.6:c.-52_-22del (MVK)	ENSP00000415555.2:n.-52_-22del
ENST00000535044.1:n.231+265_231+295del (MVK)
ENST00000537237.5:c.-52_-22del (MVK)	ENSP00000445382.1:n.-52_-22del
ENST00000539335.5:c.-6+265_-6+295del (MVK)	ENSP00000440379.1:n.-6+265_-6+295del
ENST00000539696.5:c.-129_-99del (MVK)	ENSP00000439134.1:n.-129_-99del
ENST00000545712.6:c.-381_-351del (MMAB)	ENSP00000445920.1:n.-381_-351del
ENST00000546277.5:c.-15+265_-15+295del (MVK)	ENSP00000438153.1:n.-15+265_-15+295del
NM_000431.3:c.-52_-22del (MVK)	NP_000422.1:n.-52_-22del
NM_001114185.2:c.-43_-13del (MVK)	NP_001107657.1:n.-43_-13del
NM_001301182.1:c.-52_-22del (MVK)	NP_001288111.1:n.-52_-22del
XM_011538372.1:c.-15+265_-15+295del (MVK)	XP_011536674.1:n.-15+265_-15+295del
XM_017019313.2:c.-15+265_-15+295del (MVK)	XP_016874802.1:n.-15+265_-15+295del
XM_024448982.1:c.-15+265_-15+295del (MVK)	XP_024304750.1:n.-15+265_-15+295del
NM_000431.4:c.-52_-22del (MVK) MANE Select	NP_000422.1:n.-52_-22del
NM_001114185.3:c.-43_-13del (MVK)	NP_001107657.1:n.-43_-13del
NM_001301182.2:c.-52_-22del (MVK)	NP_001288111.1:n.-52_-22del