Canonical Allele Identifier: CA1138540401

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v3: X-153688547-CG-C
• gnomAD v4: X-153688547-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688549del , CM000685.2:g.153688549del	GRCh38
NC_000023.10:g.152954004del , CM000685.1:g.152954004del	GRCh37
NC_000023.9:g.152607198del	NCBI36
NG_012016.1:g.5253del
NG_012016.2:g.5253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-26del (SLC6A8) MANE Select	ENSP00000253122.5:n.-26del
ENST00000253122.9:c.-26del (SLC6A8)	ENSP00000253122.5:n.-26del
ENST00000458354.5:c.-3+267del (PNCK)	ENSP00000401542.1:n.-3+267del
ENST00000480693.1:n.64+267del (PNCK)
NM_001142805.1:c.-26del (SLC6A8)	NP_001136277.1:n.-26del
NM_005629.3:c.-26del (SLC6A8)	NP_005620.1:n.-26del
NM_005629.4:c.-26del (SLC6A8) MANE Select	NP_005620.1:n.-26del
NM_001142805.2:c.-26del (SLC6A8)	NP_001136277.1:n.-26del