Canonical Allele Identifier: CA915947774

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 801369
• ClinVar RCV Id: RCV000986137
• dbSNP Id: rs1592111112
• gnomAD v4: 11-119026654-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026659del , CM000673.2:g.119026659del	GRCh38
NC_000011.9:g.118897369del , CM000673.1:g.118897369del	GRCh37
NC_000011.8:g.118402579del	NCBI36
NG_013331.1:g.9251del , LRG_187:g.9251del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1014+282del
ENST00000697845.1:n.1220del
ENST00000697846.1:n.1014+282del
ENST00000697847.1:n.1048del
ENST00000697848.1:n.1048del
ENST00000697849.1:n.2335del
ENST00000697850.1:n.1048del
ENST00000697851.1:n.2656del
ENST00000638186.1:n.1122del
ENST00000638360.1:n.954del
ENST00000638925.1:n.1055del
ENST00000650539.1:n.1224del
ENST00000330775.9:c.818del	ENSP00000476242.2:p.Gly273AlafsTer3
ENST00000357590.9:c.818del	ENSP00000476176.2:p.Gly273AlafsTer3
ENST00000524428.5:n.1106+282del
ENST00000525039.5:n.1242del
ENST00000525102.5:n.1576del
ENST00000525372.5:n.819del
ENST00000526275.5:n.1600del
ENST00000527992.5:n.1046del
ENST00000529510.5:n.558+282del
ENST00000530407.5:n.968del
ENST00000532085.1:n.3677del
ENST00000538950.5:c.599del	ENSP00000475991.2:p.Gly200AlafsTer3
ENST00000545985.5:c.818del	ENSP00000475241.2:p.Gly273AlafsTer3
NM_001164277.1:c.818del , LRG_187t1:c.818del	NP_001157749.1:p.Gly273AlafsTer3
NM_001164278.1:c.818del	NP_001157750.1:p.Gly273AlafsTer3
NM_001164279.1:c.599del	NP_001157751.1:p.Gly200AlafsTer3
NM_001164280.1:c.818del	NP_001157752.1:p.Gly273AlafsTer3
NM_001467.5:c.818del	NP_001458.1:p.Gly273AlafsTer3
NM_001164278.2:c.818del	NP_001157750.1:p.Gly273AlafsTer3
NM_001164279.2:c.599del	NP_001157751.1:p.Gly200AlafsTer3
NM_001164280.2:c.818del	NP_001157752.1:p.Gly273AlafsTer3
NM_001467.6:c.818del	NP_001458.1:p.Gly273AlafsTer3
NM_001164277.2:c.818del MANE Select	NP_001157749.1:p.Gly273AlafsTer3