Canonical Allele Identifier: CA2612829956

Gene: SLC6A5

Linked Data

• gnomAD v4: 11-20638470-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20638471_20638472del , CM000673.2:g.20638471_20638472del	GRCh38
NC_000011.9:g.20660017_20660018del , CM000673.1:g.20660017_20660018del	GRCh37
NC_000011.8:g.20616593_20616594del	NCBI36
NG_013086.1:g.44072_44073del
NG_013086.2:g.44072_44073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525748.6:c.1882_1883del MANE Select	ENSP00000434364.2:p.Met628ValfsTer20
ENST00000298923.11:c.*1179_*1180del	ENSP00000298923.7:n.*1179_*1180del
ENST00000525748.5:c.1882_1883del	ENSP00000434364.1:p.Met628ValfsTer20
ENST00000528440.1:n.413_414del
NM_004211.3:c.1882_1883del	NP_004202.2:p.Met628ValfsTer20
XM_005253225.1:c.1180_1181del	XP_005253282.1:p.Met394ValfsTer20
XM_011520473.1:c.1882_1883del	XP_011518775.1:p.Met628ValfsTer20
NM_001318369.1:c.1180_1181del	NP_001305298.1:p.Met394ValfsTer20
NM_004211.4:c.1882_1883del	NP_004202.3:p.Met628ValfsTer20
XM_017018544.2:c.1006_1007del	XP_016874033.1:p.Met336ValfsTer20
XM_017018545.2:c.841_842del	XP_016874034.1:p.Met281ValfsTer20
NM_001318369.2:c.1180_1181del	NP_001305298.1:p.Met394ValfsTer20
NM_004211.5:c.1882_1883del MANE Select	NP_004202.4:p.Met628ValfsTer20