Canonical Allele Identifier: CA2679403362

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600504-CCTTCTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600505_73600512del , CM000668.2:g.73600505_73600512del	GRCh38
NC_000006.11:g.74310228_74310235del , CM000668.1:g.74310228_74310235del	GRCh37
NC_000006.10:g.74366949_74366956del	NCBI36
NG_008272.1:g.58503_58510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-71_1260-64del MANE Select	ENSP00000348019.5:n.1260-71_1260-64del
ENST00000355773.5:c.1260-71_1260-64del	ENSP00000348019.5:n.1260-71_1260-64del
NM_012434.4:c.1260-71_1260-64del	NP_036566.1:n.1260-71_1260-64del
XM_005248710.2:c.1209-71_1209-64del	XP_005248767.1:n.1209-71_1209-64del
XM_005248711.1:c.1062-71_1062-64del	XP_005248768.1:n.1062-71_1062-64del
XM_011535750.1:c.1112-71_1112-64del	XP_011534052.1:n.1112-71_1112-64del
NM_012434.5:c.1260-71_1260-64del MANE Select	NP_036566.1:n.1260-71_1260-64del
NM_001382629.1:c.1029-71_1029-64del	NP_001369558.1:n.1029-71_1029-64del
NM_001382630.1:c.1260-5298_1260-5291del	NP_001369559.1:n.1260-5298_1260-5291del
NM_001382631.1:c.1281-71_1281-64del	NP_001369560.1:n.1281-71_1281-64del
NM_001382632.1:c.1173-71_1173-64del	NP_001369561.1:n.1173-71_1173-64del
NM_001382633.1:c.1260-71_1260-64del	NP_001369562.1:n.1260-71_1260-64del
NM_001382634.1:c.1101-71_1101-64del	NP_001369563.1:n.1101-71_1101-64del
NM_001382635.1:c.1257-71_1257-64del	NP_001369564.1:n.1257-71_1257-64del
NM_001382636.1:c.942-71_942-64del	NP_001369565.1:n.942-71_942-64del