Canonical Allele Identifier: CA1139662376

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 971803
• ClinVar RCV Id: RCV001247672
• dbSNP Id: rs1943556915

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026023del , CM000673.2:g.119026023del	GRCh38
NC_000011.9:g.118896733del , CM000673.1:g.118896733del	GRCh37
NC_000011.8:g.118401943del	NCBI36
NG_013331.1:g.9884del , LRG_187:g.9884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1073del
ENST00000697845.1:n.1853del
ENST00000697846.1:n.1073del
ENST00000697847.1:n.1202-265del
ENST00000697848.1:n.1159del
ENST00000697849.1:n.2968del
ENST00000697850.1:n.1159del
ENST00000697851.1:n.2767del
ENST00000638186.1:n.1233del
ENST00000638360.1:n.1065del
ENST00000638925.1:n.1198del
ENST00000650539.1:n.1335del
ENST00000330775.9:c.929del	ENSP00000476242.2:p.Gly310AlafsTer2
ENST00000357590.9:c.929del	ENSP00000476176.2:p.Gly310AlafsTer2
ENST00000524428.5:n.1165del
ENST00000525039.5:n.1353del
ENST00000525102.5:n.1687del
ENST00000525372.5:n.1027del
ENST00000526275.5:n.1711del
ENST00000527992.5:n.1157del
ENST00000529510.5:n.617del
ENST00000530407.5:n.1079del
ENST00000532085.1:n.4310del
ENST00000538950.5:c.710del	ENSP00000475991.2:p.Gly237AlafsTer2
ENST00000545985.5:c.929del	ENSP00000475241.2:p.Gly310AlafsTer2
NM_001164277.1:c.929del , LRG_187t1:c.929del	NP_001157749.1:p.Gly310AlafsTer2
NM_001164278.1:c.929del	NP_001157750.1:p.Gly310AlafsTer2
NM_001164279.1:c.710del	NP_001157751.1:p.Gly237AlafsTer2
NM_001164280.1:c.929del	NP_001157752.1:p.Gly310AlafsTer2
NM_001467.5:c.929del	NP_001458.1:p.Gly310AlafsTer2
NM_001164278.2:c.929del	NP_001157750.1:p.Gly310AlafsTer2
NM_001164279.2:c.710del	NP_001157751.1:p.Gly237AlafsTer2
NM_001164280.2:c.929del	NP_001157752.1:p.Gly310AlafsTer2
NM_001467.6:c.929del	NP_001458.1:p.Gly310AlafsTer2
NM_001164277.2:c.929del MANE Select	NP_001157749.1:p.Gly310AlafsTer2