Canonical Allele Identifier: CA2466435765

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688505_153688506delinsGC , CM000685.2:g.153688505_153688506delinsGC GRCh38
NC_000023.10:g.152953960_152953961delinsGC , CM000685.1:g.152953960_152953961delinsGC GRCh37
NC_000023.9:g.152607154_152607155delinsGC NCBI36
NG_012016.1:g.5209_5210delinsGC
NG_012016.2:g.5209_5210delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-70_-69delinsGC (SLC6A8) MANE Select ENSP00000253122.5:n.-70_-69delinsGC
ENST00000253122.9:c.-70_-69delinsGC (SLC6A8) ENSP00000253122.5:n.-70_-69delinsGC
ENST00000458354.5:c.-3+309_-3+310delinsGC (PNCK) ENSP00000401542.1:n.-3+309_-3+310delinsGC
ENST00000480693.1:n.64+309_64+310delinsGC (PNCK)
NM_001142805.1:c.-70_-69delinsGC (SLC6A8) NP_001136277.1:n.-70_-69delinsGC
NM_005629.3:c.-70_-69delinsGC (SLC6A8) NP_005620.1:n.-70_-69delinsGC
NM_005629.4:c.-70_-69delinsGC (SLC6A8) MANE Select NP_005620.1:n.-70_-69delinsGC
NM_001142805.2:c.-70_-69delinsGC (SLC6A8) NP_001136277.1:n.-70_-69delinsGC