Canonical Allele Identifier: CA557565979
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v2: 5-1414497-CAGGAAAGGCACT-C
gnomAD v3: 5-1414382-CAGGAAAGGCACT-C
gnomAD v4: 5-1414382-CAGGAAAGGCACT-C
MyVariant Identifiers: chr5:g.1414498_1414509del (hg19) chr5:g.1414383_1414394del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414383_1414394del , CM000667.2:g.1414383_1414394del GRCh38
NC_000005.9:g.1414498_1414509del , CM000667.1:g.1414498_1414509del GRCh37
NC_000005.8:g.1467498_1467509del NCBI36
NG_015885.1:g.36035_36046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+297_1156+308del MANE Select ENSP00000270349.9:n.1156+297_1156+308del
ENST00000270349.11:c.1156+297_1156+308del ENSP00000270349.9:n.1156+297_1156+308del
NM_001044.4:c.1156+297_1156+308del NP_001035.1:n.1156+297_1156+308del
NM_001044.5:c.1156+297_1156+308del MANE Select NP_001035.1:n.1156+297_1156+308del
Search 100 bp 5'
Search 100 bp 3'