Canonical Allele Identifier: CA2586620268

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791853_50791854del , CM000681.2:g.50791853_50791854del GRCh38
NC_000019.9:g.51295110_51295111del , CM000681.1:g.51295110_51295111del GRCh37
NC_000019.8:g.55986922_55986923del NCBI36
NG_052652.1:g.6439_6440del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+51_450+52del (ACP4) MANE Select ENSP00000270593.1:n.450+51_450+52del
ENST00000636757.1:c.-60+558_-60+559del (SMIM47) ENSP00000489695.1:n.-60+558_-60+559del
ENST00000270593.1:c.450+51_450+52del (ACP4) ENSP00000270593.1:n.450+51_450+52del
NM_033068.2:c.450+51_450+52del (ACP4) NP_149059.1:n.450+51_450+52del
XR_936026.1:n.424+558_424+559del
XR_936026.2:n.434+558_434+559del
NM_033068.3:c.450+51_450+52del (ACP4) MANE Select NP_149059.1:n.450+51_450+52del