Canonical Allele Identifier: CA622173976

Gene: ARMC5

Linked Data

• dbSNP Id: rs1567375706
• gnomAD v2: 16-31473895-AC-A
• gnomAD v4: 16-31462574-AC-A
• MyVariant Identifiers: chr16:g.31473896del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462576del , CM000678.2:g.31462576del	GRCh38
NC_000016.9:g.31473897del , CM000678.1:g.31473897del	GRCh37
NC_000016.8:g.31381398del	NCBI36
NG_034258.1:g.9304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1029del MANE Select	ENSP00000268314.4:p.Ser344ProfsTer?
ENST00000268314.8:c.1029del	ENSP00000268314.4:p.Ser344ProfsTer?
ENST00000408912.7:c.1314del	ENSP00000386125.3:p.Ser439ProfsTer?
ENST00000457010.6:c.1029del	ENSP00000399561.2:p.Ser344ProfsTer?
ENST00000538189.5:c.537del	ENSP00000443995.2:p.Ser180ProfsTer?
ENST00000563544.5:c.1029del	ENSP00000456877.1:p.Ser344ProfsTer?
ENST00000564900.1:c.213-196del
NM_001105247.1:c.1029del	NP_001098717.1:p.Ser344ProfsTer?
NM_001288767.1:c.1314del	NP_001275696.1:p.Ser439ProfsTer?
NM_001301820.1:c.1125del	NP_001288749.1:p.Ser376ProfsTer?
NM_024742.2:c.1029del	NP_079018.1:p.Ser344ProfsTer?
XM_006721091.1:c.1125del	XP_006721154.1:p.Ser376ProfsTer?
XM_006721091.3:c.1125del	XP_006721154.1:p.Ser376ProfsTer?
XM_024450448.1:c.1125del	XP_024306216.1:p.Ser376ProfsTer?
XM_024450449.1:c.1125del	XP_024306217.1:p.Ser376ProfsTer?
NM_001105247.2:c.1029del MANE Select	NP_001098717.1:p.Ser344ProfsTer?
NM_001288767.2:c.1314del	NP_001275696.1:p.Ser439ProfsTer?