Canonical Allele Identifier: CA2578669745

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73642023-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73642025del , CM000668.2:g.73642025del	GRCh38
NC_000006.11:g.74351748del , CM000668.1:g.74351748del	GRCh37
NC_000006.10:g.74408469del	NCBI36
NG_008272.1:g.16991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.292-100del MANE Select	ENSP00000348019.5:n.292-100del
ENST00000355773.5:c.292-100del	ENSP00000348019.5:n.292-100del
ENST00000481996.1:n.58-100del
NM_012434.4:c.292-100del	NP_036566.1:n.292-100del
XM_005248710.2:c.241-100del	XP_005248767.1:n.241-100del
XM_005248711.1:c.94-100del	XP_005248768.1:n.94-100del
XM_011535750.1:c.292-100del	XP_011534052.1:n.292-100del
XM_011535751.1:c.292-100del	XP_011534053.1:n.292-100del
NM_012434.5:c.292-100del MANE Select	NP_036566.1:n.292-100del
NM_001382629.1:c.61-100del	NP_001369558.1:n.61-100del
NM_001382630.1:c.292-100del	NP_001369559.1:n.292-100del
NM_001382631.1:c.313-100del	NP_001369560.1:n.313-100del
NM_001382632.1:c.292-100del	NP_001369561.1:n.292-100del
NM_001382633.1:c.292-100del	NP_001369562.1:n.292-100del
NM_001382634.1:c.292-100del	NP_001369563.1:n.292-100del
NM_001382635.1:c.292-100del	NP_001369564.1:n.292-100del
NM_001382636.1:c.61-100del	NP_001369565.1:n.61-100del