Canonical Allele Identifier: CA597485880
Community Standard Title: NM_004211.5(SLC6A5):c.541-2dup
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20604284dup , CM000673.2:g.20604284dup GRCh38
NC_000011.9:g.20625830dup , CM000673.1:g.20625830dup GRCh37
NC_000011.8:g.20582406dup NCBI36
NG_013086.1:g.9885dup
NG_013086.2:g.9885dup

Transcript Alleles

HGVS Amino-acid Change
NM_004211.5:c.541-2dup MANE Select NP_004202.4:n.541-2dup
ENST00000525748.6:c.541-2dup MANE Select ENSP00000434364.2:n.541-2dup
NM_001318369.1:c.-24+2619dup NP_001305298.1:n.-24+2619dup
NM_001318369.2:c.-24+2619dup NP_001305298.1:n.-24+2619dup
NM_004211.3:c.541-2dup NP_004202.2:n.541-2dup
NM_004211.4:c.541-2dup NP_004202.3:n.541-2dup
ENST00000298923.11:c.540+2619dup ENSP00000298923.7:n.540+2619dup
ENST00000525748.5:c.541-2dup ENSP00000434364.1:n.541-2dup
XM_005253225.1:c.-24+2619dup XP_005253282.1:n.-24+2619dup
XM_011520473.1:c.541-2dup XP_011518775.1:n.541-2dup
XM_017018545.2:c.-57+4609dup XP_016874034.1:n.-57+4609dup