Canonical Allele Identifier: CA1090523332

Gene: SLC17A5

Linked Data

• dbSNP Id: rs11349241
• gnomAD v3: 6-73600508-CTTTTTT-C
• gnomAD v4: 6-73600508-CTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600521_73600526del , CM000668.2:g.73600521_73600526del	GRCh38
NC_000006.11:g.74310244_74310249del , CM000668.1:g.74310244_74310249del	GRCh37
NC_000006.10:g.74366965_74366970del	NCBI36
NG_008272.1:g.58501_58506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1260-73_1260-68del MANE Select	ENSP00000348019.5:n.1260-73_1260-68del
ENST00000355773.5:c.1260-73_1260-68del	ENSP00000348019.5:n.1260-73_1260-68del
NM_012434.4:c.1260-73_1260-68del	NP_036566.1:n.1260-73_1260-68del
XM_005248710.2:c.1209-73_1209-68del	XP_005248767.1:n.1209-73_1209-68del
XM_005248711.1:c.1062-73_1062-68del	XP_005248768.1:n.1062-73_1062-68del
XM_011535750.1:c.1112-73_1112-68del	XP_011534052.1:n.1112-73_1112-68del
NM_012434.5:c.1260-73_1260-68del MANE Select	NP_036566.1:n.1260-73_1260-68del
NM_001382629.1:c.1029-73_1029-68del	NP_001369558.1:n.1029-73_1029-68del
NM_001382630.1:c.1260-5300_1260-5295del	NP_001369559.1:n.1260-5300_1260-5295del
NM_001382631.1:c.1281-73_1281-68del	NP_001369560.1:n.1281-73_1281-68del
NM_001382632.1:c.1173-73_1173-68del	NP_001369561.1:n.1173-73_1173-68del
NM_001382633.1:c.1260-73_1260-68del	NP_001369562.1:n.1260-73_1260-68del
NM_001382634.1:c.1101-73_1101-68del	NP_001369563.1:n.1101-73_1101-68del
NM_001382635.1:c.1257-73_1257-68del	NP_001369564.1:n.1257-73_1257-68del
NM_001382636.1:c.942-73_942-68del	NP_001369565.1:n.942-73_942-68del