Canonical Allele Identifier: CA2824271569

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688550_153688552del , CM000685.2:g.153688550_153688552del GRCh38
NC_000023.10:g.152954005_152954007del , CM000685.1:g.152954005_152954007del GRCh37
NC_000023.9:g.152607199_152607201del NCBI36
NG_012016.1:g.5254_5256del
NG_012016.2:g.5254_5256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-25_-23del (SLC6A8) MANE Select ENSP00000253122.5:n.-25_-23del
ENST00000253122.9:c.-25_-23del (SLC6A8) ENSP00000253122.5:n.-25_-23del
ENST00000458354.5:c.-3+263_-3+265del (PNCK) ENSP00000401542.1:n.-3+263_-3+265del
ENST00000480693.1:n.64+263_64+265del (PNCK)
NM_001142805.1:c.-25_-23del (SLC6A8) NP_001136277.1:n.-25_-23del
NM_005629.3:c.-25_-23del (SLC6A8) NP_005620.1:n.-25_-23del
NM_005629.4:c.-25_-23del (SLC6A8) MANE Select NP_005620.1:n.-25_-23del
NM_001142805.2:c.-25_-23del (SLC6A8) NP_001136277.1:n.-25_-23del