Canonical Allele Identifier: CA2695037040

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688837-G-GAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688837_153688838insAAC , CM000685.2:g.153688837_153688838insAAC	GRCh38
NC_000023.10:g.152954292_152954293insAAC , CM000685.1:g.152954292_152954293insAAC	GRCh37
NC_000023.9:g.152607486_152607487insAAC	NCBI36
NG_012016.1:g.5541_5542insAAC
NG_012016.2:g.5541_5542insAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.262+1_262+2insAAC (SLC6A8) MANE Select	ENSP00000253122.5:n.262+1_262+2insAAC
ENST00000253122.9:c.262+1_262+2insAAC (SLC6A8)	ENSP00000253122.5:n.262+1_262+2insAAC
ENST00000458354.5:c.-26_-25insGTT (PNCK)	ENSP00000401542.1:n.-26_-25insGTT
ENST00000476466.1:n.114+1_114+2insAAC (SLC6A8)
ENST00000480693.1:n.41_42insGTT (PNCK)
NM_001142805.1:c.262+1_262+2insAAC (SLC6A8)	NP_001136277.1:n.262+1_262+2insAAC
NM_005629.3:c.262+1_262+2insAAC (SLC6A8)	NP_005620.1:n.262+1_262+2insAAC
NM_005629.4:c.262+1_262+2insAAC (SLC6A8) MANE Select	NP_005620.1:n.262+1_262+2insAAC
NM_001142805.2:c.262+1_262+2insAAC (SLC6A8)	NP_001136277.1:n.262+1_262+2insAAC