Canonical Allele Identifier: CA1730703551

Gene: SLC26A5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374490_103374493delinsAGTT , CM000669.2:g.103374490_103374493delinsAGTT	GRCh38
NC_000007.13:g.103014937_103014940delinsAGTT , CM000669.1:g.103014937_103014940delinsAGTT	GRCh37
NC_000007.12:g.102802173_102802176delinsAGTT	NCBI36
NG_023055.1:g.76685_76688delinsAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2141_2144delinsAACT MANE Select	ENSP00000304783.3:p.Gln714=
ENST00000306312.7:c.2141_2144delinsAACT	ENSP00000304783.3:p.Gln714=
ENST00000339444.10:c.2041+2315_2041+2318delinsAACT	ENSP00000342396.6:n.2041+2315_2041+2318delinsAACT
ENST00000354356.8:c.2147_2150delinsAACT	ENSP00000346325.5:p.Gln716=
ENST00000356767.8:c.972-21567_972-21564delinsAACT	ENSP00000349210.4:n.972-21567_972-21564delinsAACT
ENST00000393723.2:c.2051_2054delinsAACT	ENSP00000377324.1:p.Gln684=
ENST00000393727.5:c.2147_2150delinsAACT	ENSP00000377328.1:p.Gln716=
ENST00000393729.5:c.2030_2033delinsAACT	ENSP00000377330.1:p.Gln677=
ENST00000393730.5:c.2045_2048delinsAACT	ENSP00000377331.1:p.Gln682=
ENST00000393735.6:c.1514+14515_1514+14518delinsAACT	ENSP00000377336.2:n.1514+14515_1514+14518delinsAACT
ENST00000423416.5:c.*553_*556delinsAACT	ENSP00000389018.1:n.*553_*556delinsAACT
ENST00000432958.6:c.2045_2048delinsAACT	ENSP00000389733.2:p.Gln682=
ENST00000445809.5:c.*1124_*1127delinsAACT	ENSP00000396833.1:n.*1124_*1127delinsAACT
ENST00000454864.5:c.*445_*448delinsAACT	ENSP00000416502.1:n.*445_*448delinsAACT
ENST00000456463.5:c.*1342_*1345delinsAACT	ENSP00000395568.1:n.*1342_*1345delinsAACT
NM_001167962.1:c.2045_2048delinsAACT	NP_001161434.1:p.Gln682=
NM_198999.2:c.2141_2144delinsAACT	NP_945350.1:p.Gln714=
NM_206883.2:c.2041+2315_2041+2318delinsAACT	NP_996766.1:n.2041+2315_2041+2318delinsAACT
NM_206884.2:c.1514+14515_1514+14518delinsAACT	NP_996767.1:n.1514+14515_1514+14518delinsAACT
NM_206885.2:c.972-21567_972-21564delinsAACT	NP_996768.1:n.972-21567_972-21564delinsAACT
NR_120441.1:n.2157_2160delinsAACT
NR_120442.1:n.2053_2056delinsAACT
NR_120443.1:n.1971_1974delinsAACT
XM_011516170.1:c.2141_2144delinsAACT	XP_011514472.1:p.Gln714=
NM_001321787.1:c.1945+2315_1945+2318delinsAACT	NP_001308716.1:n.1945+2315_1945+2318delinsAACT
NR_135801.1:n.2159_2162delinsAACT
NR_135802.1:n.2137+2315_2137+2318delinsAACT
XM_011516170.3:c.2141_2144delinsAACT	XP_011514472.1:p.Gln714=
XR_001744725.2:n.2333_2336delinsAACT
XR_001744726.1:n.3023+2315_3023+2318delinsAACT
XR_001744727.2:n.2237_2240delinsAACT
NM_001321787.2:c.1945+2315_1945+2318delinsAACT	NP_001308716.1:n.1945+2315_1945+2318delinsAACT
NM_198999.3:c.2141_2144delinsAACT MANE Select	NP_945350.1:p.Gln714=
NM_206883.3:c.2041+2315_2041+2318delinsAACT	NP_996766.1:n.2041+2315_2041+2318delinsAACT
NM_206884.3:c.1514+14515_1514+14518delinsAACT	NP_996767.1:n.1514+14515_1514+14518delinsAACT
NM_206885.3:c.972-21567_972-21564delinsAACT	NP_996768.1:n.972-21567_972-21564delinsAACT
NR_135802.2:n.2167+2315_2167+2318delinsAACT
NM_001167962.2:c.2045_2048delinsAACT	NP_001161434.1:p.Gln682=
NR_135801.2:n.2189_2192delinsAACT