Canonical Allele Identifier: CA2679405065

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73644532-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644533del , CM000668.2:g.73644533del	GRCh38
NC_000006.11:g.74354256del , CM000668.1:g.74354256del	GRCh37
NC_000006.10:g.74410977del	NCBI36
NG_008272.1:g.14482del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.165del MANE Select	ENSP00000348019.5:p.Leu56TyrfsTer3
ENST00000355773.5:c.165del	ENSP00000348019.5:p.Leu56TyrfsTer3
NM_012434.4:c.165del	NP_036566.1:p.Leu56TyrfsTer3
XM_005248710.2:c.114del	XP_005248767.1:p.Leu39TyrfsTer3
XM_005248711.1:c.-34del	XP_005248768.1:n.-34del
XM_011535750.1:c.165del	XP_011534052.1:p.Leu56TyrfsTer3
XM_011535751.1:c.165del	XP_011534053.1:p.Leu56TyrfsTer3
NM_012434.5:c.165del MANE Select	NP_036566.1:p.Leu56TyrfsTer3
NM_001382629.1:c.61-2609del	NP_001369558.1:n.61-2609del
NM_001382630.1:c.165del	NP_001369559.1:p.Leu56TyrfsTer3
NM_001382631.1:c.186del	NP_001369560.1:p.Leu63TyrfsTer3
NM_001382632.1:c.165del	NP_001369561.1:p.Leu56TyrfsTer3
NM_001382633.1:c.165del	NP_001369562.1:p.Leu56TyrfsTer3
NM_001382634.1:c.165del	NP_001369563.1:p.Leu56TyrfsTer3
NM_001382635.1:c.165del	NP_001369564.1:p.Leu56TyrfsTer3
NM_001382636.1:c.61-2609del	NP_001369565.1:n.61-2609del