Canonical Allele Identifier: CA2771705385

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644556_73644557insCACACCCAACAC , CM000668.2:g.73644556_73644557insCACACCCAACAC	GRCh38
NC_000006.11:g.74354279_74354280insCACACCCAACAC , CM000668.1:g.74354279_74354280insCACACCCAACAC	GRCh37
NC_000006.10:g.74411000_74411001insCACACCCAACAC	NCBI36
NG_008272.1:g.14458_14459insGTGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.141_142insGTGTTGGGTGTG MANE Select	ENSP00000348019.5:p.Phe47_Phe48insValLeuGlyVal
ENST00000355773.5:c.141_142insGTGTTGGGTGTG	ENSP00000348019.5:p.Phe47_Phe48insValLeuGlyVal
NM_012434.4:c.141_142insGTGTTGGGTGTG	NP_036566.1:p.Phe47_Phe48insValLeuGlyVal
XM_005248710.2:c.90_91insGTGTTGGGTGTG	XP_005248767.1:p.Phe30_Phe31insValLeuGlyVal
XM_005248711.1:c.-58_-57insGTGTTGGGTGTG	XP_005248768.1:n.-58_-57insGTGTTGGGTGTG
XM_011535750.1:c.141_142insGTGTTGGGTGTG	XP_011534052.1:p.Phe47_Phe48insValLeuGlyVal
XM_011535751.1:c.141_142insGTGTTGGGTGTG	XP_011534053.1:p.Phe47_Phe48insValLeuGlyVal
NM_012434.5:c.141_142insGTGTTGGGTGTG MANE Select	NP_036566.1:p.Phe47_Phe48insValLeuGlyVal
NM_001382629.1:c.61-2633_61-2632insGTGTTGGGTGTG	NP_001369558.1:n.61-2633_61-2632insGTGTTGGGTGTG
NM_001382630.1:c.141_142insGTGTTGGGTGTG	NP_001369559.1:p.Phe47_Phe48insValLeuGlyVal
NM_001382631.1:c.162_163insGTGTTGGGTGTG	NP_001369560.1:p.Phe54_Phe55insValLeuGlyVal
NM_001382632.1:c.141_142insGTGTTGGGTGTG	NP_001369561.1:p.Phe47_Phe48insValLeuGlyVal
NM_001382633.1:c.141_142insGTGTTGGGTGTG	NP_001369562.1:p.Phe47_Phe48insValLeuGlyVal
NM_001382634.1:c.141_142insGTGTTGGGTGTG	NP_001369563.1:p.Phe47_Phe48insValLeuGlyVal
NM_001382635.1:c.141_142insGTGTTGGGTGTG	NP_001369564.1:p.Phe47_Phe48insValLeuGlyVal
NM_001382636.1:c.61-2633_61-2632insGTGTTGGGTGTG	NP_001369565.1:n.61-2633_61-2632insGTGTTGGGTGTG