Canonical Allele Identifier: CA1072524395

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414438-GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT-G
• gnomAD v4: 5-1414438-GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414444_1414480del , CM000667.2:g.1414444_1414480del	GRCh38
NC_000005.9:g.1414559_1414595del , CM000667.1:g.1414559_1414595del	GRCh37
NC_000005.8:g.1467559_1467595del	NCBI36
NG_015885.1:g.35954_35990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+216_1156+252del MANE Select	ENSP00000270349.9:n.1156+216_1156+252del
ENST00000270349.11:c.1156+216_1156+252del	ENSP00000270349.9:n.1156+216_1156+252del
NM_001044.4:c.1156+216_1156+252del	NP_001035.1:n.1156+216_1156+252del
NM_001044.5:c.1156+216_1156+252del MANE Select	NP_001035.1:n.1156+216_1156+252del