Canonical Allele Identifier: CA602577840
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 973538
ClinVar RCV Id: RCV001250169
dbSNP Id: rs1432360280

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029278_119029280del , CM000673.2:g.119029278_119029280del GRCh38
NC_000011.9:g.118899988_118899990del , CM000673.1:g.118899988_118899990del GRCh37
NC_000011.8:g.118405198_118405200del NCBI36
NG_013331.1:g.6629_6631del , LRG_187:g.6629_6631del

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.321_323del
ENST00000697846.1:n.321_323del
ENST00000697847.1:n.321_323del
ENST00000697848.1:n.321_323del
ENST00000697849.1:n.565_567del
ENST00000697850.1:n.321_323del
ENST00000697851.1:n.565_567del
ENST00000638186.1:n.395_397del
ENST00000638360.1:n.329_331del
ENST00000638925.1:n.328_330del
ENST00000650539.1:n.497_499del
ENST00000330775.9:c.92_94del ENSP00000476242.2:p.Phe31del
ENST00000357590.9:c.92_94del ENSP00000476176.2:p.Phe31del
ENST00000524428.5:n.92_94del
ENST00000525039.5:n.515_517del
ENST00000525102.5:n.849_851del
ENST00000525372.5:n.92_94del
ENST00000525787.1:n.387_389del
ENST00000526626.6:n.287_289del
ENST00000527992.5:n.319_321del
ENST00000529510.5:n.110_112del
ENST00000530407.5:n.197+114_197+116del
ENST00000532085.1:n.1586_1588del
ENST00000532888.6:n.287_289del
ENST00000534384.1:n.312_314del
ENST00000538950.5:c.-172+114_-172+116del ENSP00000475991.2:n.-172+114_-172+116del
ENST00000545985.5:c.92_94del ENSP00000475241.2:p.Phe31del
NM_001164277.1:c.92_94del , LRG_187t1:c.92_94del NP_001157749.1:p.Phe31del
NM_001164278.1:c.92_94del NP_001157750.1:p.Phe31del
NM_001164279.1:c.-172+114_-172+116del NP_001157751.1:n.-172+114_-172+116del
NM_001164280.1:c.92_94del NP_001157752.1:p.Phe31del
NM_001467.5:c.92_94del NP_001458.1:p.Phe31del
NM_001164278.2:c.92_94del NP_001157750.1:p.Phe31del
NM_001164279.2:c.-172+114_-172+116del NP_001157751.1:n.-172+114_-172+116del
NM_001164280.2:c.92_94del NP_001157752.1:p.Phe31del
NM_001467.6:c.92_94del NP_001458.1:p.Phe31del
NM_001164277.2:c.92_94del MANE Select NP_001157749.1:p.Phe31del