Canonical Allele Identifier: CA2573332707

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688633_153688634delinsA , CM000685.2:g.153688633_153688634delinsA	GRCh38
NC_000023.10:g.152954088_152954089delinsA , CM000685.1:g.152954088_152954089delinsA	GRCh37
NC_000023.9:g.152607282_152607283delinsA	NCBI36
NG_012016.1:g.5337_5338delinsA
NG_012016.2:g.5337_5338delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.59_60delinsA (SLC6A8) MANE Select	ENSP00000253122.5:p.Gly20AspfsTer?
ENST00000253122.9:c.59_60delinsA (SLC6A8)	ENSP00000253122.5:p.Gly20AspfsTer?
ENST00000458354.5:c.-3+181_-3+182delinsT (PNCK)	ENSP00000401542.1:n.-3+181_-3+182delinsT
ENST00000480693.1:n.64+181_64+182delinsT (PNCK)
NM_001142805.1:c.59_60delinsA (SLC6A8)	NP_001136277.1:p.Gly20AspfsTer?
NM_005629.3:c.59_60delinsA (SLC6A8)	NP_005620.1:p.Gly20AspfsTer?
NM_005629.4:c.59_60delinsA (SLC6A8) MANE Select	NP_005620.1:p.Gly20AspfsTer?
NM_001142805.2:c.59_60delinsA (SLC6A8)	NP_001136277.1:p.Gly20AspfsTer?