Canonical Allele Identifier: CA2580083688

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2107823
• ClinVar RCV Id: RCV003017524

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027035del , CM000673.2:g.119027035del	GRCh38
NC_000011.9:g.118897745del , CM000673.1:g.118897745del	GRCh37
NC_000011.8:g.118402955del	NCBI36
NG_013331.1:g.8871del , LRG_187:g.8871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.916del
ENST00000697845.1:n.840del
ENST00000697846.1:n.916del
ENST00000697847.1:n.916del
ENST00000697848.1:n.916del
ENST00000697849.1:n.1955del
ENST00000697850.1:n.916del
ENST00000697851.1:n.2276del
ENST00000638186.1:n.990del
ENST00000638360.1:n.822del
ENST00000638925.1:n.923del
ENST00000650539.1:n.1092del
ENST00000330775.9:c.686del	ENSP00000476242.2:p.Leu229ProfsTer11
ENST00000357590.9:c.686del	ENSP00000476176.2:p.Leu229ProfsTer11
ENST00000524428.5:n.1008del
ENST00000525039.5:n.1110del
ENST00000525102.5:n.1444del
ENST00000525372.5:n.687del
ENST00000526275.5:n.1468del
ENST00000526626.6:n.649del
ENST00000527992.5:n.914del
ENST00000529510.5:n.460del
ENST00000530407.5:n.836del
ENST00000532085.1:n.3297del
ENST00000532888.6:n.982del
ENST00000538950.5:c.467del	ENSP00000475991.2:p.Leu156ProfsTer11
ENST00000545985.5:c.686del	ENSP00000475241.2:p.Leu229ProfsTer11
NM_001164277.1:c.686del , LRG_187t1:c.686del	NP_001157749.1:p.Leu229ProfsTer11
NM_001164278.1:c.686del	NP_001157750.1:p.Leu229ProfsTer11
NM_001164279.1:c.467del	NP_001157751.1:p.Leu156ProfsTer11
NM_001164280.1:c.686del	NP_001157752.1:p.Leu229ProfsTer11
NM_001467.5:c.686del	NP_001458.1:p.Leu229ProfsTer11
NM_001164278.2:c.686del	NP_001157750.1:p.Leu229ProfsTer11
NM_001164279.2:c.467del	NP_001157751.1:p.Leu156ProfsTer11
NM_001164280.2:c.686del	NP_001157752.1:p.Leu229ProfsTer11
NM_001467.6:c.686del	NP_001458.1:p.Leu229ProfsTer11
NM_001164277.2:c.686del MANE Select	NP_001157749.1:p.Leu229ProfsTer11