Canonical Allele Identifier: CA2679404158

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73621883-G-GGAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621883_73621884insGAAAA , CM000668.2:g.73621883_73621884insGAAAA	GRCh38
NC_000006.11:g.74331606_74331607insGAAAA , CM000668.1:g.74331606_74331607insGAAAA	GRCh37
NC_000006.10:g.74388327_74388328insGAAAA	NCBI36
NG_008272.1:g.37131_37132insTTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.898_899insTTTTC MANE Select	ENSP00000348019.5:p.Ser300PhefsTer12
ENST00000355773.5:c.898_899insTTTTC	ENSP00000348019.5:p.Ser300PhefsTer12
NM_012434.4:c.898_899insTTTTC	NP_036566.1:p.Ser300PhefsTer12
XM_005248710.2:c.847_848insTTTTC	XP_005248767.1:p.Ser283PhefsTer12
XM_005248711.1:c.700_701insTTTTC	XP_005248768.1:p.Ser234PhefsTer12
XM_011535750.1:c.898_899insTTTTC	XP_011534052.1:p.Ser300PhefsTer12
NM_012434.5:c.898_899insTTTTC MANE Select	NP_036566.1:p.Ser300PhefsTer12
NM_001382629.1:c.667_668insTTTTC	NP_001369558.1:p.Ser223PhefsTer12
NM_001382630.1:c.898_899insTTTTC	NP_001369559.1:p.Ser300PhefsTer12
NM_001382631.1:c.919_920insTTTTC	NP_001369560.1:p.Ser307PhefsTer12
NM_001382632.1:c.811_812insTTTTC	NP_001369561.1:p.Ser271PhefsTer12
NM_001382633.1:c.898_899insTTTTC	NP_001369562.1:p.Ser300PhefsTer12
NM_001382634.1:c.820-6437_820-6436insTTTTC	NP_001369563.1:n.820-6437_820-6436insTTTT...
NM_001382635.1:c.895_896insTTTTC	NP_001369564.1:p.Ser299PhefsTer12
NM_001382636.1:c.580_581insTTTTC	NP_001369565.1:p.Ser194PhefsTer12