Canonical Allele Identifier: CA112968521

Gene: SLC6A3

Linked Data

• dbSNP Id: rs574242399
• gnomAD v2: 5-1423795-CCT-C
• gnomAD v3: 5-1423680-CCT-C
• gnomAD v4: 5-1423680-CCT-C
• MyVariant Identifiers: chr5:g.1423796_1423797del (hg19) ; chr5:g.1423681_1423682del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1423681_1423682del , CM000667.2:g.1423681_1423682del	GRCh38
NC_000005.9:g.1423796_1423797del , CM000667.1:g.1423796_1423797del	GRCh37
NC_000005.8:g.1476796_1476797del	NCBI36
NG_015885.1:g.26747_26748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.654-1668_654-1667del MANE Select	ENSP00000270349.9:n.654-1668_654-1667del
ENST00000270349.11:c.654-1668_654-1667del	ENSP00000270349.9:n.654-1668_654-1667del
NM_001044.4:c.654-1668_654-1667del	NP_001035.1:n.654-1668_654-1667del
NM_001044.5:c.654-1668_654-1667del MANE Select	NP_001035.1:n.654-1668_654-1667del