Canonical Allele Identifier: CA658823069

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 550548
• ClinVar RCV Id: RCV000665324
• dbSNP Id: rs1555191512
• MyVariant Identifiers: chr11:g.119028205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028206del , CM000673.2:g.119028206del	GRCh38
NC_000011.9:g.118898916del , CM000673.1:g.118898916del	GRCh37
NC_000011.8:g.118404126del	NCBI36
NG_013331.1:g.7702del , LRG_187:g.7702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.599del
ENST00000697845.1:n.523del
ENST00000697846.1:n.599del
ENST00000697847.1:n.599del
ENST00000697848.1:n.599del
ENST00000697849.1:n.1638del
ENST00000697850.1:n.599del
ENST00000697851.1:n.1638del
ENST00000638186.1:n.673del
ENST00000638360.1:n.607del
ENST00000638925.1:n.606del
ENST00000650539.1:n.775del
ENST00000330775.9:c.370del	ENSP00000476242.2:p.Val124SerfsTer22
ENST00000357590.9:c.370del	ENSP00000476176.2:p.Val124SerfsTer22
ENST00000524428.5:n.370del
ENST00000525039.5:n.793del
ENST00000525102.5:n.1127del
ENST00000525372.5:n.370del
ENST00000525787.1:n.665del
ENST00000526275.5:n.830del
ENST00000526626.6:n.344-333del
ENST00000527992.5:n.597del
ENST00000529510.5:n.388del
ENST00000530407.5:n.519del
ENST00000532085.1:n.2659del
ENST00000532888.6:n.665del
ENST00000538950.5:c.151del	ENSP00000475991.2:p.Val51SerfsTer22
ENST00000545985.5:c.370del	ENSP00000475241.2:p.Val124SerfsTer22
NM_001164277.1:c.370del , LRG_187t1:c.370del	NP_001157749.1:p.Val124SerfsTer22
NM_001164278.1:c.370del	NP_001157750.1:p.Val124SerfsTer22
NM_001164279.1:c.151del	NP_001157751.1:p.Val51SerfsTer22
NM_001164280.1:c.370del	NP_001157752.1:p.Val124SerfsTer22
NM_001467.5:c.370del	NP_001458.1:p.Val124SerfsTer22
NM_001164278.2:c.370del	NP_001157750.1:p.Val124SerfsTer22
NM_001164279.2:c.151del	NP_001157751.1:p.Val51SerfsTer22
NM_001164280.2:c.370del	NP_001157752.1:p.Val124SerfsTer22
NM_001467.6:c.370del	NP_001458.1:p.Val124SerfsTer22
NM_001164277.2:c.370del MANE Select	NP_001157749.1:p.Val124SerfsTer22