Canonical Allele Identifier: CA2579744090
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688622_153688624del , CM000685.2:g.153688622_153688624del GRCh38
NC_000023.10:g.152954077_152954079del , CM000685.1:g.152954077_152954079del GRCh37
NC_000023.9:g.152607271_152607273del NCBI36
NG_012016.1:g.5326_5328del
NG_012016.2:g.5326_5328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.48_50del (SLC6A8) MANE Select ENSP00000253122.5:p.Asp16del
ENST00000253122.9:c.48_50del (SLC6A8) ENSP00000253122.5:p.Asp16del
ENST00000458354.5:c.-3+194_-3+196del (PNCK) ENSP00000401542.1:n.-3+194_-3+196del
ENST00000480693.1:n.64+194_64+196del (PNCK)
NM_001142805.1:c.48_50del (SLC6A8) NP_001136277.1:p.Asp16del
NM_005629.3:c.48_50del (SLC6A8) NP_005620.1:p.Asp16del
NM_005629.4:c.48_50del (SLC6A8) MANE Select NP_005620.1:p.Asp16del
NM_001142805.2:c.48_50del (SLC6A8) NP_001136277.1:p.Asp16del
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