Canonical Allele Identifier: CA1072526049
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414485-G-GA
gnomAD v4: 5-1414485-G-GA

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414485_1414486insA , CM000667.2:g.1414485_1414486insA GRCh38
NC_000005.9:g.1414600_1414601insA , CM000667.1:g.1414600_1414601insA GRCh37
NC_000005.8:g.1467600_1467601insA NCBI36
NG_015885.1:g.35943_35944insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+205_1156+206insT MANE Select ENSP00000270349.9:n.1156+205_1156+206insT
ENST00000270349.11:c.1156+205_1156+206insT ENSP00000270349.9:n.1156+205_1156+206insT
NM_001044.4:c.1156+205_1156+206insT NP_001035.1:n.1156+205_1156+206insT
NM_001044.5:c.1156+205_1156+206insT MANE Select NP_001035.1:n.1156+205_1156+206insT