Canonical Allele Identifier: CA2697552056

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2707017
• ClinVar RCV Id: RCV003508107

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027009del , CM000673.2:g.119027009del	GRCh38
NC_000011.9:g.118897719del , CM000673.1:g.118897719del	GRCh37
NC_000011.8:g.118402929del	NCBI36
NG_013331.1:g.8898del , LRG_187:g.8898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.943del
ENST00000697845.1:n.867del
ENST00000697846.1:n.943del
ENST00000697847.1:n.943del
ENST00000697848.1:n.943del
ENST00000697849.1:n.1982del
ENST00000697850.1:n.943del
ENST00000697851.1:n.2303del
ENST00000638186.1:n.1017del
ENST00000638360.1:n.849del
ENST00000638925.1:n.950del
ENST00000650539.1:n.1119del
ENST00000330775.9:c.713del	ENSP00000476242.2:p.Gly238GlufsTer2
ENST00000357590.9:c.713del	ENSP00000476176.2:p.Gly238GlufsTer2
ENST00000524428.5:n.1035del
ENST00000525039.5:n.1137del
ENST00000525102.5:n.1471del
ENST00000525372.5:n.714del
ENST00000526275.5:n.1495del
ENST00000526626.6:n.676del
ENST00000527992.5:n.941del
ENST00000529510.5:n.487del
ENST00000530407.5:n.863del
ENST00000532085.1:n.3324del
ENST00000532888.6:n.1009del
ENST00000538950.5:c.494del	ENSP00000475991.2:p.Gly165GlufsTer2
ENST00000545985.5:c.713del	ENSP00000475241.2:p.Gly238GlufsTer2
NM_001164277.1:c.713del , LRG_187t1:c.713del	NP_001157749.1:p.Gly238GlufsTer2
NM_001164278.1:c.713del	NP_001157750.1:p.Gly238GlufsTer2
NM_001164279.1:c.494del	NP_001157751.1:p.Gly165GlufsTer2
NM_001164280.1:c.713del	NP_001157752.1:p.Gly238GlufsTer2
NM_001467.5:c.713del	NP_001458.1:p.Gly238GlufsTer2
NM_001164278.2:c.713del	NP_001157750.1:p.Gly238GlufsTer2
NM_001164279.2:c.494del	NP_001157751.1:p.Gly165GlufsTer2
NM_001164280.2:c.713del	NP_001157752.1:p.Gly238GlufsTer2
NM_001467.6:c.713del	NP_001458.1:p.Gly238GlufsTer2
NM_001164277.2:c.713del MANE Select	NP_001157749.1:p.Gly238GlufsTer2