Canonical Allele Identifier: CA2580083684

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2103538
• ClinVar RCV Id: RCV003022200

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026971dup , CM000673.2:g.119026971dup	GRCh38
NC_000011.9:g.118897681dup , CM000673.1:g.118897681dup	GRCh37
NC_000011.8:g.118402891dup	NCBI36
NG_013331.1:g.8936dup , LRG_187:g.8936dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.981dup
ENST00000697845.1:n.905dup
ENST00000697846.1:n.981dup
ENST00000697847.1:n.981dup
ENST00000697848.1:n.981dup
ENST00000697849.1:n.2020dup
ENST00000697850.1:n.981dup
ENST00000697851.1:n.2341dup
ENST00000638186.1:n.1055dup
ENST00000638360.1:n.887dup
ENST00000638925.1:n.988dup
ENST00000650539.1:n.1157dup
ENST00000330775.9:c.751dup	ENSP00000476242.2:p.Leu251ProfsTer13
ENST00000357590.9:c.751dup	ENSP00000476176.2:p.Leu251ProfsTer13
ENST00000524428.5:n.1073dup
ENST00000525039.5:n.1175dup
ENST00000525102.5:n.1509dup
ENST00000525372.5:n.752dup
ENST00000526275.5:n.1533dup
ENST00000526626.6:n.714dup
ENST00000527992.5:n.979dup
ENST00000529510.5:n.525dup
ENST00000530407.5:n.901dup
ENST00000532085.1:n.3362dup
ENST00000532888.6:n.1047dup
ENST00000538950.5:c.532dup	ENSP00000475991.2:p.Leu178ProfsTer13
ENST00000545985.5:c.751dup	ENSP00000475241.2:p.Leu251ProfsTer13
NM_001164277.1:c.751dup , LRG_187t1:c.751dup	NP_001157749.1:p.Leu251ProfsTer13
NM_001164278.1:c.751dup	NP_001157750.1:p.Leu251ProfsTer13
NM_001164279.1:c.532dup	NP_001157751.1:p.Leu178ProfsTer13
NM_001164280.1:c.751dup	NP_001157752.1:p.Leu251ProfsTer13
NM_001467.5:c.751dup	NP_001458.1:p.Leu251ProfsTer13
NM_001164278.2:c.751dup	NP_001157750.1:p.Leu251ProfsTer13
NM_001164279.2:c.532dup	NP_001157751.1:p.Leu178ProfsTer13
NM_001164280.2:c.751dup	NP_001157752.1:p.Leu251ProfsTer13
NM_001467.6:c.751dup	NP_001458.1:p.Leu251ProfsTer13
NM_001164277.2:c.751dup MANE Select	NP_001157749.1:p.Leu251ProfsTer13