Canonical Allele Identifier: CA607287459

Gene: MVK

Linked Data

• dbSNP Id: rs1351981477
• gnomAD v2: 12-110017621-A-ACAAC
• gnomAD v3: 12-109579816-A-ACAAC
• gnomAD v4: 12-109579816-A-ACAAC
• MyVariant Identifiers: chr12:g.110017621_110017622insCAAC (hg19) ; chr12:g.109579816_109579817insCAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109579817_109579820dup , CM000674.2:g.109579817_109579820dup	GRCh38
NC_000012.11:g.110017622_110017625dup , CM000674.1:g.110017622_110017625dup	GRCh37
NC_000012.10:g.108502005_108502008dup	NCBI36
NG_007702.1:g.11123_11126dup , LRG_156:g.11123_11126dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+5944_-92+5947dup	ENSP00000439134.1:n.-92+5944_-92+5947dup
ENST00000546277.6:c.242_245dup	ENSP00000438153.2:p.Pro83AsnfsTer18
ENST00000636529.2:n.78+4917_78+4920dup
ENST00000697195.1:c.*6_*9dup	ENSP00000513181.1:n.*6_*9dup
ENST00000697196.1:c.242_245dup	ENSP00000513182.1:p.Pro83AsnfsTer18
ENST00000228510.8:c.242_245dup MANE Select	ENSP00000228510.3:p.Pro83AsnfsTer18
ENST00000636529.1:c.64+4917_64+4920dup
ENST00000636996.1:c.220-1578_220-1575dup
ENST00000228510.7:c.242_245dup	ENSP00000228510.3:p.Pro83AsnfsTer18
ENST00000392727.7:c.242_245dup	ENSP00000376487.3:p.Pro83AsnfsTer18
ENST00000447878.6:c.226+3672_226+3675dup	ENSP00000415555.2:n.226+3672_226+3675dup
ENST00000535044.1:n.471+3672_471+3675dup
ENST00000537237.5:c.*6_*9dup	ENSP00000445382.1:n.*6_*9dup
ENST00000539335.5:c.242_245dup	ENSP00000440379.1:p.Pro83AsnfsTer18
ENST00000539575.4:c.242_245dup	ENSP00000443551.2:p.Pro83AsnfsTer18
ENST00000539696.5:c.-92+5944_-92+5947dup	ENSP00000439134.1:n.-92+5944_-92+5947dup
ENST00000545774.5:c.226+3672_226+3675dup	ENSP00000443978.1:n.226+3672_226+3675dup
ENST00000546277.5:c.242_245dup	ENSP00000438153.1:p.Pro83AsnfsTer18
ENST00000625889.2:c.242_245dup	ENSP00000486846.1:p.Pro83AsnfsTer18
ENST00000629016.2:c.226+3672_226+3675dup	ENSP00000486804.1:n.226+3672_226+3675dup
NM_000431.3:c.242_245dup	NP_000422.1:p.Pro83AsnfsTer18
NM_001114185.2:c.242_245dup	NP_001107657.1:p.Pro83AsnfsTer18
NM_001301182.1:c.242_245dup	NP_001288111.1:p.Pro83AsnfsTer18
XM_011538372.1:c.242_245dup	XP_011536674.1:p.Pro83AsnfsTer18
XM_017019313.2:c.242_245dup	XP_016874802.1:p.Pro83AsnfsTer18
XM_017019314.1:c.242_245dup	XP_016874803.1:p.Pro83AsnfsTer18
XM_024448982.1:c.242_245dup	XP_024304750.1:p.Pro83AsnfsTer18
NM_000431.4:c.242_245dup MANE Select	NP_000422.1:p.Pro83AsnfsTer18
NM_001114185.3:c.242_245dup	NP_001107657.1:p.Pro83AsnfsTer18
NM_001301182.2:c.242_245dup	NP_001288111.1:p.Pro83AsnfsTer18