Canonical Allele Identifier: CA2695036141

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688561-G-GGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688562_153688563insGTG , CM000685.2:g.153688562_153688563insGTG	GRCh38
NC_000023.10:g.152954017_152954018insGTG , CM000685.1:g.152954017_152954018insGTG	GRCh37
NC_000023.9:g.152607211_152607212insGTG	NCBI36
NG_012016.1:g.5266_5267insGTG
NG_012016.2:g.5266_5267insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-13_-12insGTG (SLC6A8) MANE Select	ENSP00000253122.5:n.-13_-12insGTG
ENST00000253122.9:c.-13_-12insGTG (SLC6A8)	ENSP00000253122.5:n.-13_-12insGTG
ENST00000458354.5:c.-3+253_-3+254insACC (PNCK)	ENSP00000401542.1:n.-3+253_-3+254insACC
ENST00000480693.1:n.64+253_64+254insACC (PNCK)
NM_001142805.1:c.-13_-12insGTG (SLC6A8)	NP_001136277.1:n.-13_-12insGTG
NM_005629.3:c.-13_-12insGTG (SLC6A8)	NP_005620.1:n.-13_-12insGTG
NM_005629.4:c.-13_-12insGTG (SLC6A8) MANE Select	NP_005620.1:n.-13_-12insGTG
NM_001142805.2:c.-13_-12insGTG (SLC6A8)	NP_001136277.1:n.-13_-12insGTG