Canonical Allele Identifier: CA2695037204

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688845-C-CTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688845_153688846insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT , CM000685.2:g.153688845_153688846insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT	GRCh38
NC_000023.10:g.152954300_152954301insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT , CM000685.1:g.152954300_152954301insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT	GRCh37
NC_000023.9:g.152607494_152607495insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT	NCBI36
NG_012016.1:g.5549_5550insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT
NG_012016.2:g.5549_5550insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT (SLC6A8) MANE Select	ENSP00000253122.5:n.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTG...
ENST00000253122.9:c.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT (SLC6A8)	ENSP00000253122.5:n.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTG...
ENST00000458354.5:c.-34_-33insACAGATGTTCCAGACATTGATGCTGCCGGCCTTCATGAACTGGCCCAGCGAGATCTCTAAGAAGAAAATGGGGATTCCTCCAACCAGGGCGATCAGGACGTAGGGAATAA (PNCK)	ENSP00000401542.1:n.-34_-33insACAGATGTTCCAGACATTGATGCTGCCGGCC...
ENST00000476466.1:n.114+9_114+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT (SLC6A8)
ENST00000480693.1:n.33_34insACAGATGTTCCAGACATTGATGCTGCCGGCCTTCATGAACTGGCCCAGCGAGATCTCTAAGAAGAAAATGGGGATTCCTCCAACCAGGGCGATCAGGACGTAGGGAATAA (PNCK)
NM_001142805.1:c.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT (SLC6A8)	NP_001136277.1:n.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTT...
NM_005629.3:c.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT (SLC6A8)	NP_005620.1:n.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGA...
NM_005629.4:c.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT (SLC6A8) MANE Select	NP_005620.1:n.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGA...
NM_001142805.2:c.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTTGGAGGAATCCCCATTTTCTTCTTAGAGATCTCGCTGGGCCAGTTCATGAAGGCCGGCAGCATCAATGTCTGGAACATCTGT (SLC6A8)	NP_001136277.1:n.262+9_262+10insTTATTCCCTACGTCCTGATCGCCCTGGTT...