Canonical Allele Identifier: CA2573032522

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791944_50791949del , CM000681.2:g.50791944_50791949del GRCh38
NC_000019.9:g.51295201_51295206del , CM000681.1:g.51295201_51295206del GRCh37
NC_000019.8:g.55987013_55987018del NCBI36
NG_052652.1:g.6530_6535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.451-129_451-124del (ACP4) MANE Select ENSP00000270593.1:n.451-129_451-124del
ENST00000636757.1:c.-60+456_-60+461del (SMIM47) ENSP00000489695.1:n.-60+456_-60+461del
ENST00000270593.1:c.451-129_451-124del (ACP4) ENSP00000270593.1:n.451-129_451-124del
NM_033068.2:c.451-129_451-124del (ACP4) NP_149059.1:n.451-129_451-124del
XR_936026.1:n.424+456_424+461del
XR_936026.2:n.434+456_434+461del
NM_033068.3:c.451-129_451-124del (ACP4) MANE Select NP_149059.1:n.451-129_451-124del