Canonical Allele Identifier: CA2466435808

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688569_153688570delinsGA , CM000685.2:g.153688569_153688570delinsGA	GRCh38
NC_000023.10:g.152954024_152954025delinsGA , CM000685.1:g.152954024_152954025delinsGA	GRCh37
NC_000023.9:g.152607218_152607219delinsGA	NCBI36
NG_012016.1:g.5273_5274delinsGA
NG_012016.2:g.5273_5274delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-6_-5delinsGA (SLC6A8) MANE Select	ENSP00000253122.5:n.-6_-5delinsGA
ENST00000253122.9:c.-6_-5delinsGA (SLC6A8)	ENSP00000253122.5:n.-6_-5delinsGA
ENST00000458354.5:c.-3+245_-3+246delinsTC (PNCK)	ENSP00000401542.1:n.-3+245_-3+246delinsTC
ENST00000480693.1:n.64+245_64+246delinsTC (PNCK)
NM_001142805.1:c.-6_-5delinsGA (SLC6A8)	NP_001136277.1:n.-6_-5delinsGA
NM_005629.3:c.-6_-5delinsGA (SLC6A8)	NP_005620.1:n.-6_-5delinsGA
NM_005629.4:c.-6_-5delinsGA (SLC6A8) MANE Select	NP_005620.1:n.-6_-5delinsGA
NM_001142805.2:c.-6_-5delinsGA (SLC6A8)	NP_001136277.1:n.-6_-5delinsGA