Canonical Allele Identifier: CA2695036245

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688583-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688585del , CM000685.2:g.153688585del	GRCh38
NC_000023.10:g.152954040del , CM000685.1:g.152954040del	GRCh37
NC_000023.9:g.152607234del	NCBI36
NG_012016.1:g.5289del
NG_012016.2:g.5289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.11del (SLC6A8) MANE Select	ENSP00000253122.5:p.Lys4ArgfsTer?
ENST00000253122.9:c.11del (SLC6A8)	ENSP00000253122.5:p.Lys4ArgfsTer?
ENST00000458354.5:c.-3+231del (PNCK)	ENSP00000401542.1:n.-3+231del
ENST00000480693.1:n.64+231del (PNCK)
NM_001142805.1:c.11del (SLC6A8)	NP_001136277.1:p.Lys4ArgfsTer?
NM_005629.3:c.11del (SLC6A8)	NP_005620.1:p.Lys4ArgfsTer?
NM_005629.4:c.11del (SLC6A8) MANE Select	NP_005620.1:p.Lys4ArgfsTer?
NM_001142805.2:c.11del (SLC6A8)	NP_001136277.1:p.Lys4ArgfsTer?