Canonical Allele Identifier: CA2612827769

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20627972-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20627976_20627977del , CM000673.2:g.20627976_20627977del	GRCh38
NC_000011.9:g.20649522_20649523del , CM000673.1:g.20649522_20649523del	GRCh37
NC_000011.8:g.20606098_20606099del	NCBI36
NG_013086.1:g.33577_33578del
NG_013086.2:g.33577_33578del

Transcript Alleles

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