Canonical Allele Identifier: CA2557062787

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688412-CCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688422_153688526del , CM000685.2:g.153688422_153688526del	GRCh38
NC_000023.10:g.152953877_152953981del , CM000685.1:g.152953877_152953981del	GRCh37
NC_000023.9:g.152607071_152607175del	NCBI36
NG_012016.1:g.5126_5230del
NG_012016.2:g.5126_5230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-153_-49del (SLC6A8) MANE Select	ENSP00000253122.5:n.-153_-49del
ENST00000253122.9:c.-153_-49del (SLC6A8)	ENSP00000253122.5:n.-153_-49del
ENST00000458354.5:c.-3+298_-3+402del (PNCK)	ENSP00000401542.1:n.-3+298_-3+402del
ENST00000480693.1:n.64+298_64+402del (PNCK)
NM_001142805.1:c.-153_-49del (SLC6A8)	NP_001136277.1:n.-153_-49del
NM_005629.3:c.-153_-49del (SLC6A8)	NP_005620.1:n.-153_-49del
NM_005629.4:c.-153_-49del (SLC6A8) MANE Select	NP_005620.1:n.-153_-49del
NM_001142805.2:c.-153_-49del (SLC6A8)	NP_001136277.1:n.-153_-49del