Canonical Allele Identifier: CA557566000

Gene: SLC6A3

Linked Data

• gnomAD v2: 5-1414528-G-GCACAA
• gnomAD v3: 5-1414413-G-GCACAA
• gnomAD v4: 5-1414413-G-GCACAA
• MyVariant Identifiers: chr5:g.1414528_1414529insCACAA (hg19) ; chr5:g.1414413_1414414insCACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414413_1414414insCACAA , CM000667.2:g.1414413_1414414insCACAA	GRCh38
NC_000005.9:g.1414528_1414529insCACAA , CM000667.1:g.1414528_1414529insCACAA	GRCh37
NC_000005.8:g.1467528_1467529insCACAA	NCBI36
NG_015885.1:g.36015_36016insTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+277_1156+278insTTGTG MANE Select	ENSP00000270349.9:n.1156+277_1156+278insTTGTG
ENST00000270349.11:c.1156+277_1156+278insTTGTG	ENSP00000270349.9:n.1156+277_1156+278insTTGTG
NM_001044.4:c.1156+277_1156+278insTTGTG	NP_001035.1:n.1156+277_1156+278insTTGTG
NM_001044.5:c.1156+277_1156+278insTTGTG MANE Select	NP_001035.1:n.1156+277_1156+278insTTGTG