Canonical Allele Identifier: CA2695199027

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2678964
• ClinVar RCV Id: RCV003472940

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027053dup , CM000673.2:g.119027053dup	GRCh38
NC_000011.9:g.118897763dup , CM000673.1:g.118897763dup	GRCh37
NC_000011.8:g.118402973dup	NCBI36
NG_013331.1:g.8856dup , LRG_187:g.8856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.901dup
ENST00000697845.1:n.825dup
ENST00000697846.1:n.901dup
ENST00000697847.1:n.901dup
ENST00000697848.1:n.901dup
ENST00000697849.1:n.1940dup
ENST00000697850.1:n.901dup
ENST00000697851.1:n.2261dup
ENST00000638186.1:n.975dup
ENST00000638360.1:n.807dup
ENST00000638925.1:n.908dup
ENST00000650539.1:n.1077dup
ENST00000330775.9:c.671dup	ENSP00000476242.2:p.Tyr225LeufsTer21
ENST00000357590.9:c.671dup	ENSP00000476176.2:p.Tyr225LeufsTer21
ENST00000524428.5:n.993dup
ENST00000525039.5:n.1095dup
ENST00000525102.5:n.1429dup
ENST00000525372.5:n.672dup
ENST00000526275.5:n.1453dup
ENST00000526626.6:n.634dup
ENST00000527992.5:n.899dup
ENST00000529510.5:n.445dup
ENST00000530407.5:n.821dup
ENST00000532085.1:n.3282dup
ENST00000532888.6:n.967dup
ENST00000538950.5:c.452dup	ENSP00000475991.2:p.Tyr152LeufsTer21
ENST00000545985.5:c.671dup	ENSP00000475241.2:p.Tyr225LeufsTer21
NM_001164277.1:c.671dup , LRG_187t1:c.671dup	NP_001157749.1:p.Tyr225LeufsTer21
NM_001164278.1:c.671dup	NP_001157750.1:p.Tyr225LeufsTer21
NM_001164279.1:c.452dup	NP_001157751.1:p.Tyr152LeufsTer21
NM_001164280.1:c.671dup	NP_001157752.1:p.Tyr225LeufsTer21
NM_001467.5:c.671dup	NP_001458.1:p.Tyr225LeufsTer21
NM_001164278.2:c.671dup	NP_001157750.1:p.Tyr225LeufsTer21
NM_001164279.2:c.452dup	NP_001157751.1:p.Tyr152LeufsTer21
NM_001164280.2:c.671dup	NP_001157752.1:p.Tyr225LeufsTer21
NM_001467.6:c.671dup	NP_001458.1:p.Tyr225LeufsTer21
NM_001164277.2:c.671dup MANE Select	NP_001157749.1:p.Tyr225LeufsTer21