Canonical Allele Identifier: CA2616339987

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2678962
• ClinVar RCV Id: RCV003472938
• gnomAD v4: 11-119026068-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026070dup , CM000673.2:g.119026070dup	GRCh38
NC_000011.9:g.118896780dup , CM000673.1:g.118896780dup	GRCh37
NC_000011.8:g.118401990dup	NCBI36
NG_013331.1:g.9837dup , LRG_187:g.9837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1026dup
ENST00000697845.1:n.1806dup
ENST00000697846.1:n.1026dup
ENST00000697847.1:n.1202-312dup
ENST00000697848.1:n.1112dup
ENST00000697849.1:n.2921dup
ENST00000697850.1:n.1112dup
ENST00000697851.1:n.2720dup
ENST00000638186.1:n.1186dup
ENST00000638360.1:n.1018dup
ENST00000638925.1:n.1151dup
ENST00000650539.1:n.1288dup
ENST00000330775.9:c.882dup	ENSP00000476242.2:p.Asn295GlnfsTer?
ENST00000357590.9:c.882dup	ENSP00000476176.2:p.Asn295GlnfsTer?
ENST00000524428.5:n.1118dup
ENST00000525039.5:n.1306dup
ENST00000525102.5:n.1640dup
ENST00000525372.5:n.980dup
ENST00000526275.5:n.1664dup
ENST00000527992.5:n.1110dup
ENST00000529510.5:n.570dup
ENST00000530407.5:n.1032dup
ENST00000532085.1:n.4263dup
ENST00000538950.5:c.663dup	ENSP00000475991.2:p.Asn222GlnfsTer?
ENST00000545985.5:c.882dup	ENSP00000475241.2:p.Asn295GlnfsTer?
NM_001164277.1:c.882dup , LRG_187t1:c.882dup	NP_001157749.1:p.Asn295GlnfsTer?
NM_001164278.1:c.882dup	NP_001157750.1:p.Asn295GlnfsTer?
NM_001164279.1:c.663dup	NP_001157751.1:p.Asn222GlnfsTer?
NM_001164280.1:c.882dup	NP_001157752.1:p.Asn295GlnfsTer?
NM_001467.5:c.882dup	NP_001458.1:p.Asn295GlnfsTer?
NM_001164278.2:c.882dup	NP_001157750.1:p.Asn295GlnfsTer?
NM_001164279.2:c.663dup	NP_001157751.1:p.Asn222GlnfsTer?
NM_001164280.2:c.882dup	NP_001157752.1:p.Asn295GlnfsTer?
NM_001467.6:c.882dup	NP_001458.1:p.Asn295GlnfsTer?
NM_001164277.2:c.882dup MANE Select	NP_001157749.1:p.Asn295GlnfsTer?