Canonical Allele Identifier: CA2576866554

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791782del , CM000681.2:g.50791782del GRCh38
NC_000019.9:g.51295039del , CM000681.1:g.51295039del GRCh37
NC_000019.8:g.55986851del NCBI36
NG_052652.1:g.6368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.430del (ACP4) MANE Select ENSP00000270593.1:p.Val144CysfsTer9
ENST00000636757.1:c.-60+624del (SMIM47) ENSP00000489695.1:n.-60+624del
ENST00000270593.1:c.430del (ACP4) ENSP00000270593.1:p.Val144CysfsTer9
NM_033068.2:c.430del (ACP4) NP_149059.1:p.Val144CysfsTer9
XR_936026.1:n.424+624del
XR_936026.2:n.434+624del
NM_033068.3:c.430del (ACP4) MANE Select NP_149059.1:p.Val144CysfsTer9