Canonical Allele Identifier: CA2695217356

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595044del , CM000674.2:g.109595044del	GRCh38
NC_000012.11:g.110032849del , CM000674.1:g.110032849del	GRCh37
NC_000012.10:g.108517232del	NCBI36
NG_007702.1:g.26350del , LRG_156:g.26350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.59del	ENSP00000439134.1:p.Asn20ThrfsTer5
ENST00000546277.6:c.902del	ENSP00000438153.2:p.Asn301ThrfsTer5
ENST00000636529.2:n.541del
ENST00000697195.1:c.*666del	ENSP00000513181.1:n.*666del
ENST00000697196.1:c.*75del	ENSP00000513182.1:n.*75del
ENST00000697197.1:n.2931del
ENST00000697198.1:n.1286del
ENST00000228510.8:c.902del MANE Select	ENSP00000228510.3:p.Asn301ThrfsTer5
ENST00000636529.1:c.527del
ENST00000636996.1:c.750del
ENST00000228510.7:c.902del	ENSP00000228510.3:p.Asn301ThrfsTer5
ENST00000392727.7:c.746del	ENSP00000376487.3:p.Asn249ThrfsTer5
ENST00000447878.6:c.*349del	ENSP00000415555.2:n.*349del
ENST00000537237.5:c.*575del	ENSP00000445382.1:n.*575del
ENST00000539575.4:c.902del	ENSP00000443551.2:p.Asn301ThrfsTer5
ENST00000539696.5:c.59del	ENSP00000439134.1:p.Asn20ThrfsTer5
ENST00000540353.1:n.3135del
ENST00000625889.2:c.746del	ENSP00000486846.1:p.Asn249ThrfsTer5
ENST00000629016.2:c.*349del	ENSP00000486804.1:n.*349del
NM_000431.3:c.902del	NP_000422.1:p.Asn301ThrfsTer5
NM_001114185.2:c.902del	NP_001107657.1:p.Asn301ThrfsTer5
NM_001301182.1:c.746del	NP_001288111.1:p.Asn249ThrfsTer5
XM_011538372.1:c.902del	XP_011536674.1:p.Asn301ThrfsTer5
XM_017019313.2:c.746del	XP_016874802.1:p.Asn249ThrfsTer5
XM_017019314.1:c.902del	XP_016874803.1:p.Asn301ThrfsTer5
NM_000431.4:c.902del MANE Select	NP_000422.1:p.Asn301ThrfsTer5
NM_001114185.3:c.902del	NP_001107657.1:p.Asn301ThrfsTer5
NM_001301182.2:c.746del	NP_001288111.1:p.Asn249ThrfsTer5