Canonical Allele Identifier: CA2466435774

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs2091435022

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688514_153688515del , CM000685.2:g.153688514_153688515del	GRCh38
NC_000023.10:g.152953969_152953970del , CM000685.1:g.152953969_152953970del	GRCh37
NC_000023.9:g.152607163_152607164del	NCBI36
NG_012016.1:g.5218_5219del
NG_012016.2:g.5218_5219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-61_-60del (SLC6A8) MANE Select	ENSP00000253122.5:n.-61_-60del
ENST00000253122.9:c.-61_-60del (SLC6A8)	ENSP00000253122.5:n.-61_-60del
ENST00000458354.5:c.-3+300_-3+301del (PNCK)	ENSP00000401542.1:n.-3+300_-3+301del
ENST00000480693.1:n.64+300_64+301del (PNCK)
NM_001142805.1:c.-61_-60del (SLC6A8)	NP_001136277.1:n.-61_-60del
NM_005629.3:c.-61_-60del (SLC6A8)	NP_005620.1:n.-61_-60del
NM_005629.4:c.-61_-60del (SLC6A8) MANE Select	NP_005620.1:n.-61_-60del
NM_001142805.2:c.-61_-60del (SLC6A8)	NP_001136277.1:n.-61_-60del