Canonical Allele Identifier: CA1638223430

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73642080_73642086delinsAATATAG , CM000668.2:g.73642080_73642086delinsAATATAG	GRCh38
NC_000006.11:g.74351803_74351809delinsAATATAG , CM000668.1:g.74351803_74351809delinsAATATAG	GRCh37
NC_000006.10:g.74408524_74408530delinsAATATAG	NCBI36
NG_008272.1:g.16929_16935delinsCTATATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.292-162_292-156delinsCTATATT MANE Select	ENSP00000348019.5:n.292-162_292-156delinsCTATATT
ENST00000355773.5:c.292-162_292-156delinsCTATATT	ENSP00000348019.5:n.292-162_292-156delinsCTATATT
ENST00000481996.1:n.58-162_58-156delinsCTATATT
NM_012434.4:c.292-162_292-156delinsCTATATT	NP_036566.1:n.292-162_292-156delinsCTATATT
XM_005248710.2:c.241-162_241-156delinsCTATATT	XP_005248767.1:n.241-162_241-156delinsCTATATT
XM_005248711.1:c.94-162_94-156delinsCTATATT	XP_005248768.1:n.94-162_94-156delinsCTATATT
XM_011535750.1:c.292-162_292-156delinsCTATATT	XP_011534052.1:n.292-162_292-156delinsCTATATT
XM_011535751.1:c.292-162_292-156delinsCTATATT	XP_011534053.1:n.292-162_292-156delinsCTATATT
NM_012434.5:c.292-162_292-156delinsCTATATT MANE Select	NP_036566.1:n.292-162_292-156delinsCTATATT
NM_001382629.1:c.61-162_61-156delinsCTATATT	NP_001369558.1:n.61-162_61-156delinsCTATATT
NM_001382630.1:c.292-162_292-156delinsCTATATT	NP_001369559.1:n.292-162_292-156delinsCTATATT
NM_001382631.1:c.313-162_313-156delinsCTATATT	NP_001369560.1:n.313-162_313-156delinsCTATATT
NM_001382632.1:c.292-162_292-156delinsCTATATT	NP_001369561.1:n.292-162_292-156delinsCTATATT
NM_001382633.1:c.292-162_292-156delinsCTATATT	NP_001369562.1:n.292-162_292-156delinsCTATATT
NM_001382634.1:c.292-162_292-156delinsCTATATT	NP_001369563.1:n.292-162_292-156delinsCTATATT
NM_001382635.1:c.292-162_292-156delinsCTATATT	NP_001369564.1:n.292-162_292-156delinsCTATATT
NM_001382636.1:c.61-162_61-156delinsCTATATT	NP_001369565.1:n.61-162_61-156delinsCTATATT