Canonical Allele Identifier: CA1138540337

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v3: X-153688435-TCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGC-T
• gnomAD v4: X-153688435-TCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688442_153688530del , CM000685.2:g.153688442_153688530del	GRCh38
NC_000023.10:g.152953897_152953985del , CM000685.1:g.152953897_152953985del	GRCh37
NC_000023.9:g.152607091_152607179del	NCBI36
NG_012016.1:g.5146_5234del
NG_012016.2:g.5146_5234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-133_-45del (SLC6A8) MANE Select	ENSP00000253122.5:n.-133_-45del
ENST00000253122.9:c.-133_-45del (SLC6A8)	ENSP00000253122.5:n.-133_-45del
ENST00000458354.5:c.-3+291_-3+379del (PNCK)	ENSP00000401542.1:n.-3+291_-3+379del
ENST00000480693.1:n.64+291_64+379del (PNCK)
NM_001142805.1:c.-133_-45del (SLC6A8)	NP_001136277.1:n.-133_-45del
NM_005629.3:c.-133_-45del (SLC6A8)	NP_005620.1:n.-133_-45del
NM_005629.4:c.-133_-45del (SLC6A8) MANE Select	NP_005620.1:n.-133_-45del
NM_001142805.2:c.-133_-45del (SLC6A8)	NP_001136277.1:n.-133_-45del