Canonical Allele Identifier: CA2695038605

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690311-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690312_153690313insAGC , CM000685.2:g.153690312_153690313insAGC	GRCh38
NC_000023.10:g.152955767_152955768insAGC , CM000685.1:g.152955767_152955768insAGC	GRCh37
NC_000023.9:g.152608961_152608962insAGC	NCBI36
NG_012016.1:g.7016_7017insAGC
NG_012016.2:g.7016_7017insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.263-63_263-62insAGC MANE Select	ENSP00000253122.5:n.263-63_263-62insAGC
ENST00000253122.9:c.263-63_263-62insAGC	ENSP00000253122.5:n.263-63_263-62insAGC
ENST00000430077.6:c.-83-63_-83-62insAGC	ENSP00000403041.2:n.-83-63_-83-62insAGC
ENST00000476466.1:n.115-63_115-62insAGC
NM_001142805.1:c.263-63_263-62insAGC	NP_001136277.1:n.263-63_263-62insAGC
NM_001142806.1:c.-83-63_-83-62insAGC	NP_001136278.1:n.-83-63_-83-62insAGC
NM_005629.3:c.263-63_263-62insAGC	NP_005620.1:n.263-63_263-62insAGC
NM_005629.4:c.263-63_263-62insAGC MANE Select	NP_005620.1:n.263-63_263-62insAGC
NM_001142805.2:c.263-63_263-62insAGC	NP_001136277.1:n.263-63_263-62insAGC