Canonical Allele Identifier: CA6311747

Gene: SLC37A4

Linked Data

• dbSNP Id: rs782775291
• ExAC: 11:118897676 AT / A
• gnomAD v2: 11-118897676-AT-A
• gnomAD v4: 11-119026966-AT-A
• MyVariant Identifiers: chr11:g.118897677del (hg19) ; chr11:g.119026967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026967del , CM000673.2:g.119026967del	GRCh38
NC_000011.9:g.118897677del , CM000673.1:g.118897677del	GRCh37
NC_000011.8:g.118402887del	NCBI36
NG_013331.1:g.8939del , LRG_187:g.8939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.984del
ENST00000697845.1:n.908del
ENST00000697846.1:n.984del
ENST00000697847.1:n.984del
ENST00000697848.1:n.984del
ENST00000697849.1:n.2023del
ENST00000697850.1:n.984del
ENST00000697851.1:n.2344del
ENST00000638186.1:n.1058del
ENST00000638360.1:n.890del
ENST00000638925.1:n.991del
ENST00000650539.1:n.1160del
ENST00000330775.9:c.754del	ENSP00000476242.2:p.Ile252SerfsTer10
ENST00000357590.9:c.754del	ENSP00000476176.2:p.Ile252SerfsTer10
ENST00000524428.5:n.1076del
ENST00000525039.5:n.1178del
ENST00000525102.5:n.1512del
ENST00000525372.5:n.755del
ENST00000526275.5:n.1536del
ENST00000526626.6:n.717del
ENST00000527992.5:n.982del
ENST00000529510.5:n.528del
ENST00000530407.5:n.904del
ENST00000532085.1:n.3365del
ENST00000532888.6:n.1050del
ENST00000538950.5:c.535del	ENSP00000475991.2:p.Ile179SerfsTer10
ENST00000545985.5:c.754del	ENSP00000475241.2:p.Ile252SerfsTer10
NM_001164277.1:c.754del , LRG_187t1:c.754del	NP_001157749.1:p.Ile252SerfsTer10
NM_001164278.1:c.754del	NP_001157750.1:p.Ile252SerfsTer10
NM_001164279.1:c.535del	NP_001157751.1:p.Ile179SerfsTer10
NM_001164280.1:c.754del	NP_001157752.1:p.Ile252SerfsTer10
NM_001467.5:c.754del	NP_001458.1:p.Ile252SerfsTer10
NM_001164278.2:c.754del	NP_001157750.1:p.Ile252SerfsTer10
NM_001164279.2:c.535del	NP_001157751.1:p.Ile179SerfsTer10
NM_001164280.2:c.754del	NP_001157752.1:p.Ile252SerfsTer10
NM_001467.6:c.754del	NP_001458.1:p.Ile252SerfsTer10
NM_001164277.2:c.754del MANE Select	NP_001157749.1:p.Ile252SerfsTer10