Canonical Allele Identifier: CA1072522151

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414399-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT-G
• gnomAD v4: 5-1414399-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414415_1414490del , CM000667.2:g.1414415_1414490del	GRCh38
NC_000005.9:g.1414530_1414605del , CM000667.1:g.1414530_1414605del	GRCh37
NC_000005.8:g.1467530_1467605del	NCBI36
NG_015885.1:g.35954_36029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+216_1156+291del MANE Select	ENSP00000270349.9:n.1156+216_1156+291del
ENST00000270349.11:c.1156+216_1156+291del	ENSP00000270349.9:n.1156+216_1156+291del
NM_001044.4:c.1156+216_1156+291del	NP_001035.1:n.1156+216_1156+291del
NM_001044.5:c.1156+216_1156+291del MANE Select	NP_001035.1:n.1156+216_1156+291del