Canonical Allele Identifier: CA2499306933

Gene: ARMC5

Linked Data

• ClinVar Variation Id: 1803212
• ClinVar RCV Id: RCV002466882
• gnomAD v4: 16-31462744-T-TGACACTGGGGCCCTGGGCCGGCTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462746_31462771dup , CM000678.2:g.31462746_31462771dup	GRCh38
NC_000016.9:g.31474067_31474092dup , CM000678.1:g.31474067_31474092dup	GRCh37
NC_000016.8:g.31381568_31381593dup	NCBI36
NG_034258.1:g.9474_9499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.1199_1224dup MANE Select	ENSP00000268314.4:p.Ala409ThrfsTer?
ENST00000268314.8:c.1199_1224dup	ENSP00000268314.4:p.Ala409ThrfsTer?
ENST00000408912.7:c.1484_1509dup	ENSP00000386125.3:p.Ala504ThrfsTer?
ENST00000457010.6:c.1199_1224dup	ENSP00000399561.2:p.Ala409ThrfsTer?
ENST00000538189.5:c.707_732dup	ENSP00000443995.2:p.Ala245ThrfsTer?
ENST00000563544.5:c.1199_1224dup	ENSP00000456877.1:p.Ala409ThrfsTer?
ENST00000564900.1:c.213-26_213-1dup
NM_001105247.1:c.1199_1224dup	NP_001098717.1:p.Ala409ThrfsTer?
NM_001288767.1:c.1484_1509dup	NP_001275696.1:p.Ala504ThrfsTer?
NM_001301820.1:c.1295_1320dup	NP_001288749.1:p.Ala441ThrfsTer?
NM_024742.2:c.1199_1224dup	NP_079018.1:p.Ala409ThrfsTer?
XM_006721091.1:c.1295_1320dup	XP_006721154.1:p.Ala441ThrfsTer?
XM_006721091.3:c.1295_1320dup	XP_006721154.1:p.Ala441ThrfsTer?
XM_024450448.1:c.1295_1320dup	XP_024306216.1:p.Ala441ThrfsTer?
XM_024450449.1:c.1295_1320dup	XP_024306217.1:p.Ala441ThrfsTer?
NM_001105247.2:c.1199_1224dup MANE Select	NP_001098717.1:p.Ala409ThrfsTer?
NM_001288767.2:c.1484_1509dup	NP_001275696.1:p.Ala504ThrfsTer?