Canonical Allele Identifier: CA916079937

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 846755
• ClinVar RCV Id: RCV001050145
• dbSNP Id: rs1943557200

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026024del , CM000673.2:g.119026024del	GRCh38
NC_000011.9:g.118896734del , CM000673.1:g.118896734del	GRCh37
NC_000011.8:g.118401944del	NCBI36
NG_013331.1:g.9882del , LRG_187:g.9882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1071del
ENST00000697845.1:n.1851del
ENST00000697846.1:n.1071del
ENST00000697847.1:n.1202-267del
ENST00000697848.1:n.1157del
ENST00000697849.1:n.2966del
ENST00000697850.1:n.1157del
ENST00000697851.1:n.2765del
ENST00000638186.1:n.1231del
ENST00000638360.1:n.1063del
ENST00000638925.1:n.1196del
ENST00000650539.1:n.1333del
ENST00000330775.9:c.927del	ENSP00000476242.2:p.Gly310AlafsTer2
ENST00000357590.9:c.927del	ENSP00000476176.2:p.Gly310AlafsTer2
ENST00000524428.5:n.1163del
ENST00000525039.5:n.1351del
ENST00000525102.5:n.1685del
ENST00000525372.5:n.1025del
ENST00000526275.5:n.1709del
ENST00000527992.5:n.1155del
ENST00000529510.5:n.615del
ENST00000530407.5:n.1077del
ENST00000532085.1:n.4308del
ENST00000538950.5:c.708del	ENSP00000475991.2:p.Gly237AlafsTer2
ENST00000545985.5:c.927del	ENSP00000475241.2:p.Gly310AlafsTer2
NM_001164277.1:c.927del , LRG_187t1:c.927del	NP_001157749.1:p.Gly310AlafsTer2
NM_001164278.1:c.927del	NP_001157750.1:p.Gly310AlafsTer2
NM_001164279.1:c.708del	NP_001157751.1:p.Gly237AlafsTer2
NM_001164280.1:c.927del	NP_001157752.1:p.Gly310AlafsTer2
NM_001467.5:c.927del	NP_001458.1:p.Gly310AlafsTer2
NM_001164278.2:c.927del	NP_001157750.1:p.Gly310AlafsTer2
NM_001164279.2:c.708del	NP_001157751.1:p.Gly237AlafsTer2
NM_001164280.2:c.927del	NP_001157752.1:p.Gly310AlafsTer2
NM_001467.6:c.927del	NP_001458.1:p.Gly310AlafsTer2
NM_001164277.2:c.927del MANE Select	NP_001157749.1:p.Gly310AlafsTer2