Canonical Allele Identifier: CA622173978

Gene: ARMC5

Linked Data

• dbSNP Id: rs1445646111
• gnomAD v2: 16-31473956-C-CCCGACTG
• gnomAD v3: 16-31462635-C-CCCGACTG
• gnomAD v4: 16-31462635-C-CCCGACTG
• MyVariant Identifiers: chr16:g.31473956_31473957insCCGACTG (hg19) ; chr16:g.31462635_31462636insCCGACTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462637_31462643dup , CM000678.2:g.31462637_31462643dup	GRCh38
NC_000016.9:g.31473958_31473964dup , CM000678.1:g.31473958_31473964dup	GRCh37
NC_000016.8:g.31381459_31381465dup	NCBI36
NG_034258.1:g.9365_9371dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1090_1096dup MANE Select	ENSP00000268314.4:p.Arg366ProfsTer?
ENST00000268314.8:c.1090_1096dup	ENSP00000268314.4:p.Arg366ProfsTer?
ENST00000408912.7:c.1375_1381dup	ENSP00000386125.3:p.Arg461ProfsTer?
ENST00000457010.6:c.1090_1096dup	ENSP00000399561.2:p.Arg366ProfsTer?
ENST00000538189.5:c.598_604dup	ENSP00000443995.2:p.Arg202ProfsTer?
ENST00000563544.5:c.1090_1096dup	ENSP00000456877.1:p.Arg366ProfsTer?
ENST00000564900.1:c.213-135_213-129dup
NM_001105247.1:c.1090_1096dup	NP_001098717.1:p.Arg366ProfsTer?
NM_001288767.1:c.1375_1381dup	NP_001275696.1:p.Arg461ProfsTer?
NM_001301820.1:c.1186_1192dup	NP_001288749.1:p.Arg398ProfsTer?
NM_024742.2:c.1090_1096dup	NP_079018.1:p.Arg366ProfsTer?
XM_006721091.1:c.1186_1192dup	XP_006721154.1:p.Arg398ProfsTer?
XM_006721091.3:c.1186_1192dup	XP_006721154.1:p.Arg398ProfsTer?
XM_024450448.1:c.1186_1192dup	XP_024306216.1:p.Arg398ProfsTer?
XM_024450449.1:c.1186_1192dup	XP_024306217.1:p.Arg398ProfsTer?
NM_001105247.2:c.1090_1096dup MANE Select	NP_001098717.1:p.Arg366ProfsTer?
NM_001288767.2:c.1375_1381dup	NP_001275696.1:p.Arg461ProfsTer?