Canonical Allele Identifier: CA2519384881
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20627895_20627896insCAGG , CM000673.2:g.20627895_20627896insCAGG GRCh38
NC_000011.9:g.20649441_20649442insCAGG , CM000673.1:g.20649441_20649442insCAGG GRCh37
NC_000011.8:g.20606017_20606018insCAGG NCBI36
NG_013086.1:g.33496_33497insCAGG
NG_013086.2:g.33496_33497insCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1396-85_1396-84insCAGG MANE Select ENSP00000434364.2:n.1396-85_1396-84insCAGG
ENST00000298923.11:c.*693-85_*693-84insCAGG ENSP00000298923.7:n.*693-85_*693-84insCAGG
ENST00000525748.5:c.1396-85_1396-84insCAGG ENSP00000434364.1:n.1396-85_1396-84insCAGG
NM_004211.3:c.1396-85_1396-84insCAGG NP_004202.2:n.1396-85_1396-84insCAGG
XM_005253225.1:c.694-85_694-84insCAGG XP_005253282.1:n.694-85_694-84insCAGG
XM_011520473.1:c.1396-85_1396-84insCAGG XP_011518775.1:n.1396-85_1396-84insCAGG
NM_001318369.1:c.694-85_694-84insCAGG NP_001305298.1:n.694-85_694-84insCAGG
NM_004211.4:c.1396-85_1396-84insCAGG NP_004202.3:n.1396-85_1396-84insCAGG
XM_017018544.2:c.520-85_520-84insCAGG XP_016874033.1:n.520-85_520-84insCAGG
XM_017018545.2:c.355-85_355-84insCAGG XP_016874034.1:n.355-85_355-84insCAGG
NM_001318369.2:c.694-85_694-84insCAGG NP_001305298.1:n.694-85_694-84insCAGG
NM_004211.5:c.1396-85_1396-84insCAGG MANE Select NP_004202.4:n.1396-85_1396-84insCAGG