Canonical Allele Identifier: CA1138540362

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs2091434764
• gnomAD v3: X-153688490-CCCGGTGCCG-C
• gnomAD v4: X-153688490-CCCGGTGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688499_153688507del , CM000685.2:g.153688499_153688507del	GRCh38
NC_000023.10:g.152953954_152953962del , CM000685.1:g.152953954_152953962del	GRCh37
NC_000023.9:g.152607148_152607156del	NCBI36
NG_012016.1:g.5203_5211del
NG_012016.2:g.5203_5211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-76_-68del (SLC6A8) MANE Select	ENSP00000253122.5:n.-76_-68del
ENST00000253122.9:c.-76_-68del (SLC6A8)	ENSP00000253122.5:n.-76_-68del
ENST00000458354.5:c.-3+316_-3+324del (PNCK)	ENSP00000401542.1:n.-3+316_-3+324del
ENST00000480693.1:n.64+316_64+324del (PNCK)
NM_001142805.1:c.-76_-68del (SLC6A8)	NP_001136277.1:n.-76_-68del
NM_005629.3:c.-76_-68del (SLC6A8)	NP_005620.1:n.-76_-68del
NM_005629.4:c.-76_-68del (SLC6A8) MANE Select	NP_005620.1:n.-76_-68del
NM_001142805.2:c.-76_-68del (SLC6A8)	NP_001136277.1:n.-76_-68del