Canonical Allele Identifier: CA2695199028

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2678967
• ClinVar RCV Id: RCV003472943

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027072delinsCC , CM000673.2:g.119027072delinsCC	GRCh38
NC_000011.9:g.118897782delinsCC , CM000673.1:g.118897782delinsCC	GRCh37
NC_000011.8:g.118402992delinsCC	NCBI36
NG_013331.1:g.8834delinsGG , LRG_187:g.8834delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.879delinsGG
ENST00000697845.1:n.803delinsGG
ENST00000697846.1:n.879delinsGG
ENST00000697847.1:n.879delinsGG
ENST00000697848.1:n.879delinsGG
ENST00000697849.1:n.1918delinsGG
ENST00000697850.1:n.879delinsGG
ENST00000697851.1:n.2239delinsGG
ENST00000638186.1:n.953delinsGG
ENST00000638360.1:n.785delinsGG
ENST00000638925.1:n.886delinsGG
ENST00000650539.1:n.1055delinsGG
ENST00000330775.9:c.649delinsGG	ENSP00000476242.2:p.Leu217GlyfsTer29
ENST00000357590.9:c.649delinsGG	ENSP00000476176.2:p.Leu217GlyfsTer29
ENST00000524428.5:n.971delinsGG
ENST00000525039.5:n.1073delinsGG
ENST00000525102.5:n.1407delinsGG
ENST00000525372.5:n.650delinsGG
ENST00000526275.5:n.1431delinsGG
ENST00000526626.6:n.612delinsGG
ENST00000527992.5:n.877delinsGG
ENST00000529510.5:n.423delinsGG
ENST00000530407.5:n.799delinsGG
ENST00000532085.1:n.3260delinsGG
ENST00000532888.6:n.945delinsGG
ENST00000538950.5:c.430delinsGG	ENSP00000475991.2:p.Leu144GlyfsTer29
ENST00000545985.5:c.649delinsGG	ENSP00000475241.2:p.Leu217GlyfsTer29
NM_001164277.1:c.649delinsGG , LRG_187t1:c.649delinsGG	NP_001157749.1:p.Leu217GlyfsTer29
NM_001164278.1:c.649delinsGG	NP_001157750.1:p.Leu217GlyfsTer29
NM_001164279.1:c.430delinsGG	NP_001157751.1:p.Leu144GlyfsTer29
NM_001164280.1:c.649delinsGG	NP_001157752.1:p.Leu217GlyfsTer29
NM_001467.5:c.649delinsGG	NP_001458.1:p.Leu217GlyfsTer29
NM_001164278.2:c.649delinsGG	NP_001157750.1:p.Leu217GlyfsTer29
NM_001164279.2:c.430delinsGG	NP_001157751.1:p.Leu144GlyfsTer29
NM_001164280.2:c.649delinsGG	NP_001157752.1:p.Leu217GlyfsTer29
NM_001467.6:c.649delinsGG	NP_001458.1:p.Leu217GlyfsTer29
NM_001164277.2:c.649delinsGG MANE Select	NP_001157749.1:p.Leu217GlyfsTer29