Canonical Allele Identifier: CA218739275

Gene: SLC6A5

Linked Data

• dbSNP Id: rs748040513
• gnomAD v3: 11-20627830-GA-G
• gnomAD v4: 11-20627830-GA-G
• MyVariant Identifiers: chr11:g.20649377del (hg19) ; chr11:g.20627831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627831del , CM000673.2:g.20627831del	GRCh38
NC_000011.9:g.20649377del , CM000673.1:g.20649377del	GRCh37
NC_000011.8:g.20605953del	NCBI36
NG_013086.1:g.33432del
NG_013086.2:g.33432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1396-149del MANE Select	ENSP00000434364.2:n.1396-149del
ENST00000298923.11:c.*693-149del	ENSP00000298923.7:n.*693-149del
ENST00000525748.5:c.1396-149del	ENSP00000434364.1:n.1396-149del
NM_004211.3:c.1396-149del	NP_004202.2:n.1396-149del
XM_005253225.1:c.694-149del	XP_005253282.1:n.694-149del
XM_011520473.1:c.1396-149del	XP_011518775.1:n.1396-149del
NM_001318369.1:c.694-149del	NP_001305298.1:n.694-149del
NM_004211.4:c.1396-149del	NP_004202.3:n.1396-149del
XM_017018544.2:c.520-149del	XP_016874033.1:n.520-149del
XM_017018545.2:c.355-149del	XP_016874034.1:n.355-149del
NM_001318369.2:c.694-149del	NP_001305298.1:n.694-149del
NM_004211.5:c.1396-149del MANE Select	NP_004202.4:n.1396-149del