Canonical Allele Identifier: CA891863097

Gene: ARMC5

Linked Data

• ClinVar Variation Id: 591352
• ClinVar RCV Id: RCV000722530
• dbSNP Id: rs1567375574

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462475_31462476delinsAA , CM000678.2:g.31462475_31462476delinsAA	GRCh38
NC_000016.9:g.31473796_31473797delinsAA , CM000678.1:g.31473796_31473797delinsAA	GRCh37
NC_000016.8:g.31381297_31381298delinsAA	NCBI36
NG_034258.1:g.9203_9204delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.928_929delinsAA MANE Select	ENSP00000268314.4:p.Ala310Asn
ENST00000268314.8:c.928_929delinsAA	ENSP00000268314.4:p.Ala310Asn
ENST00000408912.7:c.1213_1214delinsAA	ENSP00000386125.3:p.Ala405Asn
ENST00000457010.6:c.928_929delinsAA	ENSP00000399561.2:p.Ala310Asn
ENST00000538189.5:c.436_437delinsAA	ENSP00000443995.2:p.Ala146Asn
ENST00000563544.5:c.928_929delinsAA	ENSP00000456877.1:p.Ala310Asn
ENST00000564900.1:c.212+280_212+281delinsAA
NM_001105247.1:c.928_929delinsAA	NP_001098717.1:p.Ala310Asn
NM_001288767.1:c.1213_1214delinsAA	NP_001275696.1:p.Ala405Asn
NM_001301820.1:c.1024_1025delinsAA	NP_001288749.1:p.Ala342Asn
NM_024742.2:c.928_929delinsAA	NP_079018.1:p.Ala310Asn
XM_006721091.1:c.1024_1025delinsAA	XP_006721154.1:p.Ala342Asn
XM_006721091.3:c.1024_1025delinsAA	XP_006721154.1:p.Ala342Asn
XM_024450448.1:c.1024_1025delinsAA	XP_024306216.1:p.Ala342Asn
XM_024450449.1:c.1024_1025delinsAA	XP_024306217.1:p.Ala342Asn
NM_001105247.2:c.928_929delinsAA MANE Select	NP_001098717.1:p.Ala310Asn
NM_001288767.2:c.1213_1214delinsAA	NP_001275696.1:p.Ala405Asn