Canonical Allele Identifier: CA597487319

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1418092657
• gnomAD v2: 11-20649802-GC-G
• gnomAD v3: 11-20628256-GC-G
• gnomAD v4: 11-20628256-GC-G
• MyVariant Identifiers: chr11:g.20649803del (hg19) ; chr11:g.20628257del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628258del , CM000673.2:g.20628258del	GRCh38
NC_000011.9:g.20649804del , CM000673.1:g.20649804del	GRCh37
NC_000011.8:g.20606380del	NCBI36
NG_013086.1:g.33859del
NG_013086.2:g.33859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+175del MANE Select	ENSP00000434364.2:n.1499+175del
ENST00000298923.11:c.*796+175del	ENSP00000298923.7:n.*796+175del
ENST00000525748.5:c.1499+175del	ENSP00000434364.1:n.1499+175del
NM_004211.3:c.1499+175del	NP_004202.2:n.1499+175del
XM_005253225.1:c.797+175del	XP_005253282.1:n.797+175del
XM_011520473.1:c.1499+175del	XP_011518775.1:n.1499+175del
NM_001318369.1:c.797+175del	NP_001305298.1:n.797+175del
NM_004211.4:c.1499+175del	NP_004202.3:n.1499+175del
XM_017018544.2:c.623+175del	XP_016874033.1:n.623+175del
XM_017018545.2:c.458+175del	XP_016874034.1:n.458+175del
NM_001318369.2:c.797+175del	NP_001305298.1:n.797+175del
NM_004211.5:c.1499+175del MANE Select	NP_004202.4:n.1499+175del