Canonical Allele Identifier: CA935753376

Gene: SLC6A5

Linked Data

• dbSNP Id: rs1853039573
• gnomAD v3: 11-20628195-AAAGATTTGCCTCTGGCCT-A
• gnomAD v4: 11-20628195-AAAGATTTGCCTCTGGCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20628197_20628214del , CM000673.2:g.20628197_20628214del	GRCh38
NC_000011.9:g.20649743_20649760del , CM000673.1:g.20649743_20649760del	GRCh37
NC_000011.8:g.20606319_20606336del	NCBI36
NG_013086.1:g.33798_33815del
NG_013086.2:g.33798_33815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1499+114_1499+131del MANE Select	ENSP00000434364.2:n.1499+114_1499+131del
ENST00000298923.11:c.*796+114_*796+131del	ENSP00000298923.7:n.*796+114_*796+131del
ENST00000525748.5:c.1499+114_1499+131del	ENSP00000434364.1:n.1499+114_1499+131del
NM_004211.3:c.1499+114_1499+131del	NP_004202.2:n.1499+114_1499+131del
XM_005253225.1:c.797+114_797+131del	XP_005253282.1:n.797+114_797+131del
XM_011520473.1:c.1499+114_1499+131del	XP_011518775.1:n.1499+114_1499+131del
NM_001318369.1:c.797+114_797+131del	NP_001305298.1:n.797+114_797+131del
NM_004211.4:c.1499+114_1499+131del	NP_004202.3:n.1499+114_1499+131del
XM_017018544.2:c.623+114_623+131del	XP_016874033.1:n.623+114_623+131del
XM_017018545.2:c.458+114_458+131del	XP_016874034.1:n.458+114_458+131del
NM_001318369.2:c.797+114_797+131del	NP_001305298.1:n.797+114_797+131del
NM_004211.5:c.1499+114_1499+131del MANE Select	NP_004202.4:n.1499+114_1499+131del