Canonical Allele Identifier: CA915947776

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 556140
• ClinVar RCV Id: RCV000672097
• dbSNP Id: rs1555191580

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028311_119028312insAGCCAACCAGG , CM000673.2:g.119028311_119028312insAGCCAACCAGG	GRCh38
NC_000011.9:g.118899021_118899022insAGCCAACCAGG , CM000673.1:g.118899021_118899022insAGCCAACCAGG	GRCh37
NC_000011.8:g.118404231_118404232insAGCCAACCAGG	NCBI36
NG_013331.1:g.7601_7602insTGGCTCCTGGT , LRG_187:g.7601_7602insTGGCTCCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.498_499insTGGCTCCTGGT
ENST00000697845.1:n.422_423insTGGCTCCTGGT
ENST00000697846.1:n.498_499insTGGCTCCTGGT
ENST00000697847.1:n.498_499insTGGCTCCTGGT
ENST00000697848.1:n.498_499insTGGCTCCTGGT
ENST00000697849.1:n.1537_1538insTGGCTCCTGGT
ENST00000697850.1:n.498_499insTGGCTCCTGGT
ENST00000697851.1:n.1537_1538insTGGCTCCTGGT
ENST00000638186.1:n.572_573insTGGCTCCTGGT
ENST00000638360.1:n.506_507insTGGCTCCTGGT
ENST00000638925.1:n.505_506insTGGCTCCTGGT
ENST00000650539.1:n.674_675insTGGCTCCTGGT
ENST00000330775.9:c.269_270insTGGCTCCTGGT	ENSP00000476242.2:p.Asn91GlyfsTer?
ENST00000357590.9:c.269_270insTGGCTCCTGGT	ENSP00000476176.2:p.Asn91GlyfsTer?
ENST00000524428.5:n.269_270insTGGCTCCTGGT
ENST00000525039.5:n.692_693insTGGCTCCTGGT
ENST00000525102.5:n.1026_1027insTGGCTCCTGGT
ENST00000525372.5:n.269_270insTGGCTCCTGGT
ENST00000525787.1:n.564_565insTGGCTCCTGGT
ENST00000526275.5:n.729_730insTGGCTCCTGGT
ENST00000526626.6:n.344-434_344-433insTGGCTCCTGGT
ENST00000527992.5:n.496_497insTGGCTCCTGGT
ENST00000529510.5:n.287_288insTGGCTCCTGGT
ENST00000530407.5:n.418_419insTGGCTCCTGGT
ENST00000532085.1:n.2558_2559insTGGCTCCTGGT
ENST00000532888.6:n.564_565insTGGCTCCTGGT
ENST00000534384.1:n.489_490insTGGCTCCTGGT
ENST00000538950.5:c.50_51insTGGCTCCTGGT	ENSP00000475991.2:p.Asn18GlyfsTer?
ENST00000545985.5:c.269_270insTGGCTCCTGGT	ENSP00000475241.2:p.Asn91GlyfsTer?
NM_001164277.1:c.269_270insTGGCTCCTGGT , LRG_187t1:c.269_270insTGGCTCCTGGT	NP_001157749.1:p.Asn91GlyfsTer?
NM_001164278.1:c.269_270insTGGCTCCTGGT	NP_001157750.1:p.Asn91GlyfsTer?
NM_001164279.1:c.50_51insTGGCTCCTGGT	NP_001157751.1:p.Asn18GlyfsTer?
NM_001164280.1:c.269_270insTGGCTCCTGGT	NP_001157752.1:p.Asn91GlyfsTer?
NM_001467.5:c.269_270insTGGCTCCTGGT	NP_001458.1:p.Asn91GlyfsTer?
NM_001164278.2:c.269_270insTGGCTCCTGGT	NP_001157750.1:p.Asn91GlyfsTer?
NM_001164279.2:c.50_51insTGGCTCCTGGT	NP_001157751.1:p.Asn18GlyfsTer?
NM_001164280.2:c.269_270insTGGCTCCTGGT	NP_001157752.1:p.Asn91GlyfsTer?
NM_001467.6:c.269_270insTGGCTCCTGGT	NP_001458.1:p.Asn91GlyfsTer?
NM_001164277.2:c.269_270insTGGCTCCTGGT MANE Select	NP_001157749.1:p.Asn91GlyfsTer?