Canonical Allele Identifier: CA2695038632

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690333-G-GCTGGGGGCCACCCTGAGTCCACGCTGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690336_153690364dup , CM000685.2:g.153690336_153690364dup	GRCh38
NC_000023.10:g.152955791_152955819dup , CM000685.1:g.152955791_152955819dup	GRCh37
NC_000023.9:g.152608985_152609013dup	NCBI36
NG_012016.1:g.7040_7068dup
NG_012016.2:g.7040_7068dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.263-39_263-11dup MANE Select	ENSP00000253122.5:n.263-39_263-11dup
ENST00000253122.9:c.263-39_263-11dup	ENSP00000253122.5:n.263-39_263-11dup
ENST00000430077.6:c.-83-39_-83-11dup	ENSP00000403041.2:n.-83-39_-83-11dup
ENST00000476466.1:n.115-39_115-11dup
NM_001142805.1:c.263-39_263-11dup	NP_001136277.1:n.263-39_263-11dup
NM_001142806.1:c.-83-39_-83-11dup	NP_001136278.1:n.-83-39_-83-11dup
NM_005629.3:c.263-39_263-11dup	NP_005620.1:n.263-39_263-11dup
NM_005629.4:c.263-39_263-11dup MANE Select	NP_005620.1:n.263-39_263-11dup
NM_001142805.2:c.263-39_263-11dup	NP_001136277.1:n.263-39_263-11dup