Canonical Allele Identifier: CA1730703544
Gene: SLC26A5 HGNC NCBI

Linked Data

dbSNP Id: rs1821200384

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103374474_103374475insACA , CM000669.2:g.103374474_103374475insACA GRCh38
NC_000007.13:g.103014921_103014922insACA , CM000669.1:g.103014921_103014922insACA GRCh37
NC_000007.12:g.102802157_102802158insACA NCBI36
NG_023055.1:g.76705_76706insTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000306312.8:c.2161_2162insTTG MANE Select ENSP00000304783.3:p.Ala720_Glu721insVal
ENST00000306312.7:c.2161_2162insTTG ENSP00000304783.3:p.Ala720_Glu721insVal
ENST00000339444.10:c.2041+2335_2041+2336insTTG ENSP00000342396.6:n.2041+2335_2041+2336insTTG
ENST00000354356.8:c.2167_2168insTTG ENSP00000346325.5:p.Ala722_Glu723insVal
ENST00000356767.8:c.972-21547_972-21546insTTG ENSP00000349210.4:n.972-21547_972-21546insTTG
ENST00000393723.2:c.2071_2072insTTG ENSP00000377324.1:p.Ala690_Glu691insVal
ENST00000393727.5:c.2167_2168insTTG ENSP00000377328.1:p.Ala722_Glu723insVal
ENST00000393729.5:c.2050_2051insTTG ENSP00000377330.1:p.Ala683_Glu684insVal
ENST00000393730.5:c.2065_2066insTTG ENSP00000377331.1:p.Ala688_Glu689insVal
ENST00000393735.6:c.1514+14535_1514+14536insTTG ENSP00000377336.2:n.1514+14535_1514+14536insTTG
ENST00000423416.5:c.*573_*574insTTG ENSP00000389018.1:n.*573_*574insTTG
ENST00000432958.6:c.2065_2066insTTG ENSP00000389733.2:p.Ala688_Glu689insVal
ENST00000445809.5:c.*1144_*1145insTTG ENSP00000396833.1:n.*1144_*1145insTTG
ENST00000454864.5:c.*465_*466insTTG ENSP00000416502.1:n.*465_*466insTTG
ENST00000456463.5:c.*1362_*1363insTTG ENSP00000395568.1:n.*1362_*1363insTTG
NM_001167962.1:c.2065_2066insTTG NP_001161434.1:p.Ala688_Glu689insVal
NM_198999.2:c.2161_2162insTTG NP_945350.1:p.Ala720_Glu721insVal
NM_206883.2:c.2041+2335_2041+2336insTTG NP_996766.1:n.2041+2335_2041+2336insTTG
NM_206884.2:c.1514+14535_1514+14536insTTG NP_996767.1:n.1514+14535_1514+14536insTTG
NM_206885.2:c.972-21547_972-21546insTTG NP_996768.1:n.972-21547_972-21546insTTG
NR_120441.1:n.2177_2178insTTG
NR_120442.1:n.2073_2074insTTG
NR_120443.1:n.1991_1992insTTG
XM_011516170.1:c.2161_2162insTTG XP_011514472.1:p.Ala720_Glu721insVal
NM_001321787.1:c.1945+2335_1945+2336insTTG NP_001308716.1:n.1945+2335_1945+2336insTTG
NR_135801.1:n.2179_2180insTTG
NR_135802.1:n.2137+2335_2137+2336insTTG
XM_011516170.3:c.2161_2162insTTG XP_011514472.1:p.Ala720_Glu721insVal
XR_001744725.2:n.2353_2354insTTG
XR_001744726.1:n.3023+2335_3023+2336insTTG
XR_001744727.2:n.2257_2258insTTG
NM_001321787.2:c.1945+2335_1945+2336insTTG NP_001308716.1:n.1945+2335_1945+2336insTTG
NM_198999.3:c.2161_2162insTTG MANE Select NP_945350.1:p.Ala720_Glu721insVal
NM_206883.3:c.2041+2335_2041+2336insTTG NP_996766.1:n.2041+2335_2041+2336insTTG
NM_206884.3:c.1514+14535_1514+14536insTTG NP_996767.1:n.1514+14535_1514+14536insTTG
NM_206885.3:c.972-21547_972-21546insTTG NP_996768.1:n.972-21547_972-21546insTTG
NR_135802.2:n.2167+2335_2167+2336insTTG
NM_001167962.2:c.2065_2066insTTG NP_001161434.1:p.Ala688_Glu689insVal
NR_135801.2:n.2209_2210insTTG