Canonical Allele Identifier: CA2824271567

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688541_153688542del , CM000685.2:g.153688541_153688542del	GRCh38
NC_000023.10:g.152953996_152953997del , CM000685.1:g.152953996_152953997del	GRCh37
NC_000023.9:g.152607190_152607191del	NCBI36
NG_012016.1:g.5245_5246del
NG_012016.2:g.5245_5246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-34_-33del (SLC6A8) MANE Select	ENSP00000253122.5:n.-34_-33del
ENST00000253122.9:c.-34_-33del (SLC6A8)	ENSP00000253122.5:n.-34_-33del
ENST00000458354.5:c.-3+275_-3+276del (PNCK)	ENSP00000401542.1:n.-3+275_-3+276del
ENST00000480693.1:n.64+275_64+276del (PNCK)
NM_001142805.1:c.-34_-33del (SLC6A8)	NP_001136277.1:n.-34_-33del
NM_005629.3:c.-34_-33del (SLC6A8)	NP_005620.1:n.-34_-33del
NM_005629.4:c.-34_-33del (SLC6A8) MANE Select	NP_005620.1:n.-34_-33del
NM_001142805.2:c.-34_-33del (SLC6A8)	NP_001136277.1:n.-34_-33del