Canonical Allele Identifier: CA2341080569

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791933_50791934delinsGC , CM000681.2:g.50791933_50791934delinsGC GRCh38
NC_000019.9:g.51295190_51295191delinsGC , CM000681.1:g.51295190_51295191delinsGC GRCh37
NC_000019.8:g.55987002_55987003delinsGC NCBI36
NG_052652.1:g.6519_6520delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+131_450+132delinsGC (ACP4) MANE Select ENSP00000270593.1:n.450+131_450+132delinsGC
ENST00000636757.1:c.-60+471_-60+472delinsGC (SMIM47) ENSP00000489695.1:n.-60+471_-60+472delinsGC
ENST00000270593.1:c.450+131_450+132delinsGC (ACP4) ENSP00000270593.1:n.450+131_450+132delinsGC
NM_033068.2:c.450+131_450+132delinsGC (ACP4) NP_149059.1:n.450+131_450+132delinsGC
XR_936026.1:n.424+471_424+472delinsGC
XR_936026.2:n.434+471_434+472delinsGC
NM_033068.3:c.450+131_450+132delinsGC (ACP4) MANE Select NP_149059.1:n.450+131_450+132delinsGC