Canonical Allele Identifier: CA2620812670

Gene: MVK

Linked Data

• gnomAD v4: 12-109574710-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574712_109574713del , CM000674.2:g.109574712_109574713del	GRCh38
NC_000012.11:g.110012517_110012518del , CM000674.1:g.110012517_110012518del	GRCh37
NC_000012.10:g.108496900_108496901del	NCBI36
NG_007096.1:g.3786_3787del
NG_007702.1:g.6018_6019del , LRG_156:g.6018_6019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+839_-92+840del	ENSP00000439134.1:n.-92+839_-92+840del
ENST00000546277.6:c.-14-97_-14-96del	ENSP00000438153.2:n.-14-97_-14-96del
ENST00000697195.1:c.-111_-110del	ENSP00000513181.1:n.-111_-110del
ENST00000228510.8:c.-14-97_-14-96del MANE Select	ENSP00000228510.3:n.-14-97_-14-96del
ENST00000228510.7:c.-14-97_-14-96del	ENSP00000228510.3:n.-14-97_-14-96del
ENST00000392727.7:c.-14-97_-14-96del	ENSP00000376487.3:n.-14-97_-14-96del
ENST00000447878.6:c.-14-97_-14-96del	ENSP00000415555.2:n.-14-97_-14-96del
ENST00000535044.1:n.232-97_232-96del
ENST00000537237.5:c.-14-97_-14-96del	ENSP00000445382.1:n.-14-97_-14-96del
ENST00000539335.5:c.-5-106_-5-105del	ENSP00000440379.1:n.-5-106_-5-105del
ENST00000539696.5:c.-92+839_-92+840del	ENSP00000439134.1:n.-92+839_-92+840del
ENST00000545774.5:c.-14-97_-14-96del	ENSP00000443978.1:n.-14-97_-14-96del
ENST00000546277.5:c.-14-97_-14-96del	ENSP00000438153.1:n.-14-97_-14-96del
NM_000431.3:c.-14-97_-14-96del	NP_000422.1:n.-14-97_-14-96del
NM_001114185.2:c.-5-106_-5-105del	NP_001107657.1:n.-5-106_-5-105del
NM_001301182.1:c.-14-97_-14-96del	NP_001288111.1:n.-14-97_-14-96del
XM_011538372.1:c.-14-97_-14-96del	XP_011536674.1:n.-14-97_-14-96del
XM_017019313.2:c.-14-97_-14-96del	XP_016874802.1:n.-14-97_-14-96del
XM_017019314.1:c.-15+37_-15+38del	XP_016874803.1:n.-15+37_-15+38del
XM_024448982.1:c.-14-97_-14-96del	XP_024304750.1:n.-14-97_-14-96del
NM_000431.4:c.-14-97_-14-96del MANE Select	NP_000422.1:n.-14-97_-14-96del
NM_001114185.3:c.-5-106_-5-105del	NP_001107657.1:n.-5-106_-5-105del
NM_001301182.2:c.-14-97_-14-96del	NP_001288111.1:n.-14-97_-14-96del