Canonical Allele Identifier: CA1138540341
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

gnomAD v3: X-153688436-CCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGA-C
gnomAD v4: X-153688436-CCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688451_153688557del , CM000685.2:g.153688451_153688557del GRCh38
NC_000023.10:g.152953906_152954012del , CM000685.1:g.152953906_152954012del GRCh37
NC_000023.9:g.152607100_152607206del NCBI36
NG_012016.1:g.5155_5261del
NG_012016.2:g.5155_5261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-124_-18del (SLC6A8) MANE Select ENSP00000253122.5:n.-124_-18del
ENST00000253122.9:c.-124_-18del (SLC6A8) ENSP00000253122.5:n.-124_-18del
ENST00000458354.5:c.-3+272_-3+378del (PNCK) ENSP00000401542.1:n.-3+272_-3+378del
ENST00000480693.1:n.64+272_64+378del (PNCK)
NM_001142805.1:c.-124_-18del (SLC6A8) NP_001136277.1:n.-124_-18del
NM_005629.3:c.-124_-18del (SLC6A8) NP_005620.1:n.-124_-18del
NM_005629.4:c.-124_-18del (SLC6A8) MANE Select NP_005620.1:n.-124_-18del
NM_001142805.2:c.-124_-18del (SLC6A8) NP_001136277.1:n.-124_-18del
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