Canonical Allele Identifier: CA658823057

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 551453
• ClinVar RCV Id: RCV000666518
• dbSNP Id: rs1555191105
• MyVariant Identifiers: chr11:g.119027045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027046del , CM000673.2:g.119027046del	GRCh38
NC_000011.9:g.118897756del , CM000673.1:g.118897756del	GRCh37
NC_000011.8:g.118402966del	NCBI36
NG_013331.1:g.8861del , LRG_187:g.8861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.906del
ENST00000697845.1:n.830del
ENST00000697846.1:n.906del
ENST00000697847.1:n.906del
ENST00000697848.1:n.906del
ENST00000697849.1:n.1945del
ENST00000697850.1:n.906del
ENST00000697851.1:n.2266del
ENST00000638186.1:n.980del
ENST00000638360.1:n.812del
ENST00000638925.1:n.913del
ENST00000650539.1:n.1082del
ENST00000330775.9:c.676del	ENSP00000476242.2:p.Leu226CysfsTer14
ENST00000357590.9:c.676del	ENSP00000476176.2:p.Leu226CysfsTer14
ENST00000524428.5:n.998del
ENST00000525039.5:n.1100del
ENST00000525102.5:n.1434del
ENST00000525372.5:n.677del
ENST00000526275.5:n.1458del
ENST00000526626.6:n.639del
ENST00000527992.5:n.904del
ENST00000529510.5:n.450del
ENST00000530407.5:n.826del
ENST00000532085.1:n.3287del
ENST00000532888.6:n.972del
ENST00000538950.5:c.457del	ENSP00000475991.2:p.Leu153CysfsTer14
ENST00000545985.5:c.676del	ENSP00000475241.2:p.Leu226CysfsTer14
NM_001164277.1:c.676del , LRG_187t1:c.676del	NP_001157749.1:p.Leu226CysfsTer14
NM_001164278.1:c.676del	NP_001157750.1:p.Leu226CysfsTer14
NM_001164279.1:c.457del	NP_001157751.1:p.Leu153CysfsTer14
NM_001164280.1:c.676del	NP_001157752.1:p.Leu226CysfsTer14
NM_001467.5:c.676del	NP_001458.1:p.Leu226CysfsTer14
NM_001164278.2:c.676del	NP_001157750.1:p.Leu226CysfsTer14
NM_001164279.2:c.457del	NP_001157751.1:p.Leu153CysfsTer14
NM_001164280.2:c.676del	NP_001157752.1:p.Leu226CysfsTer14
NM_001467.6:c.676del	NP_001458.1:p.Leu226CysfsTer14
NM_001164277.2:c.676del MANE Select	NP_001157749.1:p.Leu226CysfsTer14