Canonical Allele Identifier: CA2580083601

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2073022
• ClinVar RCV Id: RCV002967550

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027661del , CM000673.2:g.119027661del	GRCh38
NC_000011.9:g.118898371del , CM000673.1:g.118898371del	GRCh37
NC_000011.8:g.118403581del	NCBI36
NG_013331.1:g.8246del , LRG_187:g.8246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.823del
ENST00000697845.1:n.747del
ENST00000697846.1:n.823del
ENST00000697847.1:n.823del
ENST00000697848.1:n.823del
ENST00000697849.1:n.1862del
ENST00000697850.1:n.823del
ENST00000697851.1:n.2183del
ENST00000638186.1:n.897del
ENST00000638360.1:n.729del
ENST00000638925.1:n.830del
ENST00000650539.1:n.999del
ENST00000330775.9:c.593del	ENSP00000476242.2:p.Asn198ThrfsTer14
ENST00000357590.9:c.593del	ENSP00000476176.2:p.Asn198ThrfsTer14
ENST00000524428.5:n.915del
ENST00000525039.5:n.1017del
ENST00000525102.5:n.1351del
ENST00000525372.5:n.594del
ENST00000526275.5:n.1375del
ENST00000526626.6:n.556del
ENST00000527992.5:n.821del
ENST00000529510.5:n.399+534del
ENST00000530407.5:n.743del
ENST00000532085.1:n.3204del
ENST00000532888.6:n.889del
ENST00000538950.5:c.374del	ENSP00000475991.2:p.Asn125ThrfsTer14
ENST00000545985.5:c.593del	ENSP00000475241.2:p.Asn198ThrfsTer14
NM_001164277.1:c.593del , LRG_187t1:c.593del	NP_001157749.1:p.Asn198ThrfsTer14
NM_001164278.1:c.593del	NP_001157750.1:p.Asn198ThrfsTer14
NM_001164279.1:c.374del	NP_001157751.1:p.Asn125ThrfsTer14
NM_001164280.1:c.593del	NP_001157752.1:p.Asn198ThrfsTer14
NM_001467.5:c.593del	NP_001458.1:p.Asn198ThrfsTer14
NM_001164278.2:c.593del	NP_001157750.1:p.Asn198ThrfsTer14
NM_001164279.2:c.374del	NP_001157751.1:p.Asn125ThrfsTer14
NM_001164280.2:c.593del	NP_001157752.1:p.Asn198ThrfsTer14
NM_001467.6:c.593del	NP_001458.1:p.Asn198ThrfsTer14
NM_001164277.2:c.593del MANE Select	NP_001157749.1:p.Asn198ThrfsTer14