Canonical Allele Identifier: CA2341080365

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791583_50791588delinsCTGATT , CM000681.2:g.50791583_50791588delinsCTGATT GRCh38
NC_000019.9:g.51294840_51294845delinsCTGATT , CM000681.1:g.51294840_51294845delinsCTGATT GRCh37
NC_000019.8:g.55986652_55986657delinsCTGATT NCBI36
NG_052652.1:g.6169_6174delinsCTGATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.304-73_304-68delinsCTGATT (ACP4) MANE Select ENSP00000270593.1:n.304-73_304-68delinsCTGATT
ENST00000636757.1:c.-60+817_-60+822delinsAATCAG (SMIM47) ENSP00000489695.1:n.-60+817_-60+822delinsAATCAG
ENST00000270593.1:c.304-73_304-68delinsCTGATT (ACP4) ENSP00000270593.1:n.304-73_304-68delinsCTGATT
NM_033068.2:c.304-73_304-68delinsCTGATT (ACP4) NP_149059.1:n.304-73_304-68delinsCTGATT
XR_936026.1:n.424+817_424+822delinsAATCAG
XR_936026.2:n.434+817_434+822delinsAATCAG
NM_033068.3:c.304-73_304-68delinsCTGATT (ACP4) MANE Select NP_149059.1:n.304-73_304-68delinsCTGATT