Canonical Allele Identifier: CA2975981880

Gene: SLC37A4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027760dup , CM000673.2:g.119027760dup	GRCh38
NC_000011.9:g.118898470dup , CM000673.1:g.118898470dup	GRCh37
NC_000011.8:g.118403680dup	NCBI36
NG_013331.1:g.8148dup , LRG_187:g.8148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.724dup
ENST00000697845.1:n.648dup
ENST00000697846.1:n.724dup
ENST00000697847.1:n.724dup
ENST00000697848.1:n.724dup
ENST00000697849.1:n.1763dup
ENST00000697850.1:n.724dup
ENST00000697851.1:n.2084dup
ENST00000638186.1:n.798dup
ENST00000638360.1:n.630dup
ENST00000638925.1:n.731dup
ENST00000650539.1:n.900dup
ENST00000330775.9:c.495dup	ENSP00000476242.2:p.Arg166AlafsTer25
ENST00000357590.9:c.495dup	ENSP00000476176.2:p.Arg166AlafsTer25
ENST00000524428.5:n.816dup
ENST00000525039.5:n.918dup
ENST00000525102.5:n.1252dup
ENST00000525372.5:n.495dup
ENST00000526275.5:n.1276dup
ENST00000526626.6:n.457dup
ENST00000527992.5:n.722dup
ENST00000529510.5:n.399+435dup
ENST00000530407.5:n.644dup
ENST00000532085.1:n.3105dup
ENST00000532888.6:n.790dup
ENST00000538950.5:c.276dup	ENSP00000475991.2:p.Arg93AlafsTer25
ENST00000545985.5:c.495dup	ENSP00000475241.2:p.Arg166AlafsTer25
NM_001164277.1:c.495dup , LRG_187t1:c.495dup	NP_001157749.1:p.Arg166AlafsTer25
NM_001164278.1:c.495dup	NP_001157750.1:p.Arg166AlafsTer25
NM_001164279.1:c.276dup	NP_001157751.1:p.Arg93AlafsTer25
NM_001164280.1:c.495dup	NP_001157752.1:p.Arg166AlafsTer25
NM_001467.5:c.495dup	NP_001458.1:p.Arg166AlafsTer25
NM_001164278.2:c.495dup	NP_001157750.1:p.Arg166AlafsTer25
NM_001164279.2:c.276dup	NP_001157751.1:p.Arg93AlafsTer25
NM_001164280.2:c.495dup	NP_001157752.1:p.Arg166AlafsTer25
NM_001467.6:c.495dup	NP_001458.1:p.Arg166AlafsTer25
NM_001164277.2:c.495dup MANE Select	NP_001157749.1:p.Arg166AlafsTer25