Canonical Allele Identifier: CA2466435841

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688626_153688711delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG , CM000685.2:g.153688626_153688711delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG	GRCh38
NC_000023.10:g.152954081_152954166delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG , CM000685.1:g.152954081_152954166delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG	GRCh37
NC_000023.9:g.152607275_152607360delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG	NCBI36
NG_012016.1:g.5330_5415delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG
NG_012016.2:g.5330_5415delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.52_137delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG (SLC6A8) MANE Select	ENSP00000253122.5:p.Lys18=
ENST00000253122.9:c.52_137delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG (SLC6A8)	ENSP00000253122.5:p.Lys18=
ENST00000458354.5:c.-3+104_-3+189delinsCGGCCGCCGGGTGTCCCCAGGCCCACGGGGCCGTCGCCCTTGGCCGGGGCCCCGTCGGGCCCGGGCGCGATGAGGGGGCCCTTCTT (PNCK)	ENSP00000401542.1:n.-3+104_-3+189delinsCGGCCGCCGGGTGTCCCCAGGC...
ENST00000480693.1:n.64+104_64+189delinsCGGCCGCCGGGTGTCCCCAGGCCCACGGGGCCGTCGCCCTTGGCCGGGGCCCCGTCGGGCCCGGGCGCGATGAGGGGGCCCTTCTT (PNCK)
NM_001142805.1:c.52_137delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG (SLC6A8)	NP_001136277.1:p.Lys18=
NM_005629.3:c.52_137delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG (SLC6A8)	NP_005620.1:p.Lys18=
NM_005629.4:c.52_137delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG (SLC6A8) MANE Select	NP_005620.1:p.Lys18=
NM_001142805.2:c.52_137delinsAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGACACCCGGCGGCCG (SLC6A8)	NP_001136277.1:p.Lys18=