Canonical Allele Identifier: CA2695212795
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119028296_119028298del , CM000673.2:g.119028296_119028298del GRCh38
NC_000011.9:g.118899006_118899008del , CM000673.1:g.118899006_118899008del GRCh37
NC_000011.8:g.118404216_118404218del NCBI36
NG_013331.1:g.7611_7613del , LRG_187:g.7611_7613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.508_510del
ENST00000697845.1:n.432_434del
ENST00000697846.1:n.508_510del
ENST00000697847.1:n.508_510del
ENST00000697848.1:n.508_510del
ENST00000697849.1:n.1547_1549del
ENST00000697850.1:n.508_510del
ENST00000697851.1:n.1547_1549del
ENST00000638186.1:n.582_584del
ENST00000638360.1:n.516_518del
ENST00000638925.1:n.515_517del
ENST00000650539.1:n.684_686del
ENST00000330775.9:c.279_281del ENSP00000476242.2:p.Phe94del
ENST00000357590.9:c.279_281del ENSP00000476176.2:p.Phe94del
ENST00000524428.5:n.279_281del
ENST00000525039.5:n.702_704del
ENST00000525102.5:n.1036_1038del
ENST00000525372.5:n.279_281del
ENST00000525787.1:n.574_576del
ENST00000526275.5:n.739_741del
ENST00000526626.6:n.344-424_344-422del
ENST00000527992.5:n.506_508del
ENST00000529510.5:n.297_299del
ENST00000530407.5:n.428_430del
ENST00000532085.1:n.2568_2570del
ENST00000532888.6:n.574_576del
ENST00000534384.1:n.499_501del
ENST00000538950.5:c.60_62del ENSP00000475991.2:p.Phe21del
ENST00000545985.5:c.279_281del ENSP00000475241.2:p.Phe94del
NM_001164277.1:c.279_281del , LRG_187t1:c.279_281del NP_001157749.1:p.Phe94del
NM_001164278.1:c.279_281del NP_001157750.1:p.Phe94del
NM_001164279.1:c.60_62del NP_001157751.1:p.Phe21del
NM_001164280.1:c.279_281del NP_001157752.1:p.Phe94del
NM_001467.5:c.279_281del NP_001458.1:p.Phe94del
NM_001164278.2:c.279_281del NP_001157750.1:p.Phe94del
NM_001164279.2:c.60_62del NP_001157751.1:p.Phe21del
NM_001164280.2:c.279_281del NP_001157752.1:p.Phe94del
NM_001467.6:c.279_281del NP_001458.1:p.Phe94del
NM_001164277.2:c.279_281del MANE Select NP_001157749.1:p.Phe94del