Canonical Allele Identifier: CA2341080494

Linked Data

dbSNP Id: rs2089511021

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791811del , CM000681.2:g.50791811del GRCh38
NC_000019.9:g.51295068del , CM000681.1:g.51295068del GRCh37
NC_000019.8:g.55986880del NCBI36
NG_052652.1:g.6397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+9del (ACP4) MANE Select ENSP00000270593.1:n.450+9del
ENST00000636757.1:c.-60+598del (SMIM47) ENSP00000489695.1:n.-60+598del
ENST00000270593.1:c.450+9del (ACP4) ENSP00000270593.1:n.450+9del
NM_033068.2:c.450+9del (ACP4) NP_149059.1:n.450+9del
XR_936026.1:n.424+598del
XR_936026.2:n.434+598del
NM_033068.3:c.450+9del (ACP4) MANE Select NP_149059.1:n.450+9del