Canonical Allele Identifier: CA5921444

Gene: SLC6A5

Linked Data

• dbSNP Id: rs751706198
• ExAC: 11:20649512 CT / C
• gnomAD v2: 11-20649512-CT-C
• gnomAD v3: 11-20627966-CT-C
• gnomAD v4: 11-20627966-CT-C
• MyVariant Identifiers: chr11:g.20649513del (hg19) ; chr11:g.20627967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627970del , CM000673.2:g.20627970del	GRCh38
NC_000011.9:g.20649516del , CM000673.1:g.20649516del	GRCh37
NC_000011.8:g.20606092del	NCBI36
NG_013086.1:g.33571del
NG_013086.2:g.33571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1396-10del MANE Select	ENSP00000434364.2:n.1396-10del
ENST00000298923.11:c.*693-10del	ENSP00000298923.7:n.*693-10del
ENST00000525748.5:c.1396-10del	ENSP00000434364.1:n.1396-10del
NM_004211.3:c.1396-10del	NP_004202.2:n.1396-10del
XM_005253225.1:c.694-10del	XP_005253282.1:n.694-10del
XM_011520473.1:c.1396-10del	XP_011518775.1:n.1396-10del
NM_001318369.1:c.694-10del	NP_001305298.1:n.694-10del
NM_004211.4:c.1396-10del	NP_004202.3:n.1396-10del
XM_017018544.2:c.520-10del	XP_016874033.1:n.520-10del
XM_017018545.2:c.355-10del	XP_016874034.1:n.355-10del
NM_001318369.2:c.694-10del	NP_001305298.1:n.694-10del
NM_004211.5:c.1396-10del MANE Select	NP_004202.4:n.1396-10del