Canonical Allele Identifier: CA2632876631

Gene: ARMC5

Linked Data

• gnomAD v4: 16-31462491-GGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31462494_31462497del , CM000678.2:g.31462494_31462497del	GRCh38
NC_000016.9:g.31473815_31473818del , CM000678.1:g.31473815_31473818del	GRCh37
NC_000016.8:g.31381316_31381319del	NCBI36
NG_034258.1:g.9222_9225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268314.9:c.947_950del MANE Select	ENSP00000268314.4:p.Pro316HisfsTer12
ENST00000268314.8:c.947_950del	ENSP00000268314.4:p.Pro316HisfsTer12
ENST00000408912.7:c.1232_1235del	ENSP00000386125.3:p.Pro411HisfsTer12
ENST00000457010.6:c.947_950del	ENSP00000399561.2:p.Pro316HisfsTer12
ENST00000538189.5:c.455_458del	ENSP00000443995.2:p.Pro152HisfsTer12
ENST00000563544.5:c.947_950del	ENSP00000456877.1:p.Pro316HisfsTer12
ENST00000564900.1:c.213-278_213-275del
NM_001105247.1:c.947_950del	NP_001098717.1:p.Pro316HisfsTer12
NM_001288767.1:c.1232_1235del	NP_001275696.1:p.Pro411HisfsTer12
NM_001301820.1:c.1043_1046del	NP_001288749.1:p.Pro348HisfsTer12
NM_024742.2:c.947_950del	NP_079018.1:p.Pro316HisfsTer12
XM_006721091.1:c.1043_1046del	XP_006721154.1:p.Pro348HisfsTer12
XM_006721091.3:c.1043_1046del	XP_006721154.1:p.Pro348HisfsTer12
XM_024450448.1:c.1043_1046del	XP_024306216.1:p.Pro348HisfsTer12
XM_024450449.1:c.1043_1046del	XP_024306217.1:p.Pro348HisfsTer12
NM_001105247.2:c.947_950del MANE Select	NP_001098717.1:p.Pro316HisfsTer12
NM_001288767.2:c.1232_1235del	NP_001275696.1:p.Pro411HisfsTer12