Canonical Allele Identifier: CA2466435760

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs2091434862

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688499_153688514del , CM000685.2:g.153688499_153688514del	GRCh38
NC_000023.10:g.152953954_152953969del , CM000685.1:g.152953954_152953969del	GRCh37
NC_000023.9:g.152607148_152607163del	NCBI36
NG_012016.1:g.5203_5218del
NG_012016.2:g.5203_5218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-76_-61del (SLC6A8) MANE Select	ENSP00000253122.5:n.-76_-61del
ENST00000253122.9:c.-76_-61del (SLC6A8)	ENSP00000253122.5:n.-76_-61del
ENST00000458354.5:c.-3+304_-3+319del (PNCK)	ENSP00000401542.1:n.-3+304_-3+319del
ENST00000480693.1:n.64+304_64+319del (PNCK)
NM_001142805.1:c.-76_-61del (SLC6A8)	NP_001136277.1:n.-76_-61del
NM_005629.3:c.-76_-61del (SLC6A8)	NP_005620.1:n.-76_-61del
NM_005629.4:c.-76_-61del (SLC6A8) MANE Select	NP_005620.1:n.-76_-61del
NM_001142805.2:c.-76_-61del (SLC6A8)	NP_001136277.1:n.-76_-61del