Canonical Allele Identifier: CA2679404151

Gene: SLC17A5

Linked Data

• ClinVar Variation Id: 3003836
• ClinVar RCV Id: RCV003863411
• gnomAD v4: 6-73621784-AGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621788_73621790del , CM000668.2:g.73621788_73621790del	GRCh38
NC_000006.11:g.74331511_74331513del , CM000668.1:g.74331511_74331513del	GRCh37
NC_000006.10:g.74388232_74388234del	NCBI36
NG_008272.1:g.37228_37230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.978+17_978+19del MANE Select	ENSP00000348019.5:n.978+17_978+19del
ENST00000355773.5:c.978+17_978+19del	ENSP00000348019.5:n.978+17_978+19del
NM_012434.4:c.978+17_978+19del	NP_036566.1:n.978+17_978+19del
XM_005248710.2:c.927+17_927+19del	XP_005248767.1:n.927+17_927+19del
XM_005248711.1:c.780+17_780+19del	XP_005248768.1:n.780+17_780+19del
XM_011535750.1:c.978+17_978+19del	XP_011534052.1:n.978+17_978+19del
NM_012434.5:c.978+17_978+19del MANE Select	NP_036566.1:n.978+17_978+19del
NM_001382629.1:c.747+17_747+19del	NP_001369558.1:n.747+17_747+19del
NM_001382630.1:c.978+17_978+19del	NP_001369559.1:n.978+17_978+19del
NM_001382631.1:c.999+17_999+19del	NP_001369560.1:n.999+17_999+19del
NM_001382632.1:c.891+17_891+19del	NP_001369561.1:n.891+17_891+19del
NM_001382633.1:c.978+17_978+19del	NP_001369562.1:n.978+17_978+19del
NM_001382634.1:c.820-6340_820-6338del	NP_001369563.1:n.820-6340_820-6338del
NM_001382635.1:c.975+17_975+19del	NP_001369564.1:n.975+17_975+19del
NM_001382636.1:c.660+17_660+19del	NP_001369565.1:n.660+17_660+19del