Canonical Allele Identifier: CA2586620164
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

gnomAD v4: 19-50791549-GTC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791551_50791552del , CM000681.2:g.50791551_50791552del GRCh38
NC_000019.9:g.51294808_51294809del , CM000681.1:g.51294808_51294809del GRCh37
NC_000019.8:g.55986620_55986621del NCBI36
NG_052652.1:g.6137_6138del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.304-105_304-104del (ACP4) MANE Select ENSP00000270593.1:n.304-105_304-104del
ENST00000636757.1:c.-60+854_-60+855del (SMIM47) ENSP00000489695.1:n.-60+854_-60+855del
ENST00000270593.1:c.304-105_304-104del (ACP4) ENSP00000270593.1:n.304-105_304-104del
NM_033068.2:c.304-105_304-104del (ACP4) NP_149059.1:n.304-105_304-104del
XR_936026.1:n.424+854_424+855del
XR_936026.2:n.434+854_434+855del
NM_033068.3:c.304-105_304-104del (ACP4) MANE Select NP_149059.1:n.304-105_304-104del
Search 100 bp 5'
Search 100 bp 3'