Canonical Allele Identifier: CA2612827685

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20627868-T-TTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627869_20627872dup , CM000673.2:g.20627869_20627872dup	GRCh38
NC_000011.9:g.20649415_20649418dup , CM000673.1:g.20649415_20649418dup	GRCh37
NC_000011.8:g.20605991_20605994dup	NCBI36
NG_013086.1:g.33470_33473dup
NG_013086.2:g.33470_33473dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1396-111_1396-108dup MANE Select	ENSP00000434364.2:n.1396-111_1396-108dup
ENST00000298923.11:c.*693-111_*693-108dup	ENSP00000298923.7:n.*693-111_*693-108dup
ENST00000525748.5:c.1396-111_1396-108dup	ENSP00000434364.1:n.1396-111_1396-108dup
NM_004211.3:c.1396-111_1396-108dup	NP_004202.2:n.1396-111_1396-108dup
XM_005253225.1:c.694-111_694-108dup	XP_005253282.1:n.694-111_694-108dup
XM_011520473.1:c.1396-111_1396-108dup	XP_011518775.1:n.1396-111_1396-108dup
NM_001318369.1:c.694-111_694-108dup	NP_001305298.1:n.694-111_694-108dup
NM_004211.4:c.1396-111_1396-108dup	NP_004202.3:n.1396-111_1396-108dup
XM_017018544.2:c.520-111_520-108dup	XP_016874033.1:n.520-111_520-108dup
XM_017018545.2:c.355-111_355-108dup	XP_016874034.1:n.355-111_355-108dup
NM_001318369.2:c.694-111_694-108dup	NP_001305298.1:n.694-111_694-108dup
NM_004211.5:c.1396-111_1396-108dup MANE Select	NP_004202.4:n.1396-111_1396-108dup