Canonical Allele Identifier: CA1956619640
Gene: SLC6A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20627831_20627832delinsAT , CM000673.2:g.20627831_20627832delinsAT GRCh38
NC_000011.9:g.20649377_20649378delinsAT , CM000673.1:g.20649377_20649378delinsAT GRCh37
NC_000011.8:g.20605953_20605954delinsAT NCBI36
NG_013086.1:g.33432_33433delinsAT
NG_013086.2:g.33432_33433delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000525748.6:c.1396-149_1396-148delinsAT MANE Select ENSP00000434364.2:n.1396-149_1396-148delinsAT
ENST00000298923.11:c.*693-149_*693-148delinsAT ENSP00000298923.7:n.*693-149_*693-148delinsAT
ENST00000525748.5:c.1396-149_1396-148delinsAT ENSP00000434364.1:n.1396-149_1396-148delinsAT
NM_004211.3:c.1396-149_1396-148delinsAT NP_004202.2:n.1396-149_1396-148delinsAT
XM_005253225.1:c.694-149_694-148delinsAT XP_005253282.1:n.694-149_694-148delinsAT
XM_011520473.1:c.1396-149_1396-148delinsAT XP_011518775.1:n.1396-149_1396-148delinsAT
NM_001318369.1:c.694-149_694-148delinsAT NP_001305298.1:n.694-149_694-148delinsAT
NM_004211.4:c.1396-149_1396-148delinsAT NP_004202.3:n.1396-149_1396-148delinsAT
XM_017018544.2:c.520-149_520-148delinsAT XP_016874033.1:n.520-149_520-148delinsAT
XM_017018545.2:c.355-149_355-148delinsAT XP_016874034.1:n.355-149_355-148delinsAT
NM_001318369.2:c.694-149_694-148delinsAT NP_001305298.1:n.694-149_694-148delinsAT
NM_004211.5:c.1396-149_1396-148delinsAT MANE Select NP_004202.4:n.1396-149_1396-148delinsAT