Canonical Allele Identifier: CA2739271747

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2818473
• ClinVar RCV Id: RCV003618505

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027834del , CM000673.2:g.119027834del	GRCh38
NC_000011.9:g.118898544del , CM000673.1:g.118898544del	GRCh37
NC_000011.8:g.118403754del	NCBI36
NG_013331.1:g.8074del , LRG_187:g.8074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.650del
ENST00000697845.1:n.574del
ENST00000697846.1:n.650del
ENST00000697847.1:n.650del
ENST00000697848.1:n.650del
ENST00000697849.1:n.1689del
ENST00000697850.1:n.650del
ENST00000697851.1:n.2010del
ENST00000638186.1:n.724del
ENST00000638360.1:n.619-63del
ENST00000638925.1:n.657del
ENST00000650539.1:n.826del
ENST00000330775.9:c.421del	ENSP00000476242.2:p.Leu141CysfsTer5
ENST00000357590.9:c.421del	ENSP00000476176.2:p.Leu141CysfsTer5
ENST00000524428.5:n.742del
ENST00000525039.5:n.844del
ENST00000525102.5:n.1178del
ENST00000525372.5:n.421del
ENST00000525787.1:n.1037del
ENST00000526275.5:n.1202del
ENST00000526626.6:n.383del
ENST00000527992.5:n.648del
ENST00000529510.5:n.399+361del
ENST00000530407.5:n.570del
ENST00000532085.1:n.3031del
ENST00000532888.6:n.716del
ENST00000538950.5:c.202del	ENSP00000475991.2:p.Leu68CysfsTer5
ENST00000545985.5:c.421del	ENSP00000475241.2:p.Leu141CysfsTer5
NM_001164277.1:c.421del , LRG_187t1:c.421del	NP_001157749.1:p.Leu141CysfsTer5
NM_001164278.1:c.421del	NP_001157750.1:p.Leu141CysfsTer5
NM_001164279.1:c.202del	NP_001157751.1:p.Leu68CysfsTer5
NM_001164280.1:c.421del	NP_001157752.1:p.Leu141CysfsTer5
NM_001467.5:c.421del	NP_001458.1:p.Leu141CysfsTer5
NM_001164278.2:c.421del	NP_001157750.1:p.Leu141CysfsTer5
NM_001164279.2:c.202del	NP_001157751.1:p.Leu68CysfsTer5
NM_001164280.2:c.421del	NP_001157752.1:p.Leu141CysfsTer5
NM_001467.6:c.421del	NP_001458.1:p.Leu141CysfsTer5
NM_001164277.2:c.421del MANE Select	NP_001157749.1:p.Leu141CysfsTer5