Canonical Allele Identifier: CA622173977

Gene: ARMC5

Linked Data

• dbSNP Id: rs1567375764
• gnomAD v2: 16-31473937-C-CG
• gnomAD v4: 16-31462616-C-CG
• MyVariant Identifiers: chr16:g.31473937_31473938insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462617dup , CM000678.2:g.31462617dup	GRCh38
NC_000016.9:g.31473938dup , CM000678.1:g.31473938dup	GRCh37
NC_000016.8:g.31381439dup	NCBI36
NG_034258.1:g.9345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1070dup MANE Select	ENSP00000268314.4:p.Glu358Ter
ENST00000268314.8:c.1070dup	ENSP00000268314.4:p.Glu358Ter
ENST00000408912.7:c.1355dup	ENSP00000386125.3:p.Glu453Ter
ENST00000457010.6:c.1070dup	ENSP00000399561.2:p.Glu358Ter
ENST00000538189.5:c.578dup	ENSP00000443995.2:p.Glu194Ter
ENST00000563544.5:c.1070dup	ENSP00000456877.1:p.Glu358Ter
ENST00000564900.1:c.213-155dup
NM_001105247.1:c.1070dup	NP_001098717.1:p.Glu358Ter
NM_001288767.1:c.1355dup	NP_001275696.1:p.Glu453Ter
NM_001301820.1:c.1166dup	NP_001288749.1:p.Glu390Ter
NM_024742.2:c.1070dup	NP_079018.1:p.Glu358Ter
XM_006721091.1:c.1166dup	XP_006721154.1:p.Glu390Ter
XM_006721091.3:c.1166dup	XP_006721154.1:p.Glu390Ter
XM_024450448.1:c.1166dup	XP_024306216.1:p.Glu390Ter
XM_024450449.1:c.1166dup	XP_024306217.1:p.Glu390Ter
NM_001105247.2:c.1070dup MANE Select	NP_001098717.1:p.Glu358Ter
NM_001288767.2:c.1355dup	NP_001275696.1:p.Glu453Ter