Canonical Allele Identifier: CA918979949
Gene: SLC37A4 HGNC NCBI

Linked Data

dbSNP Id: rs1592115713

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029169_119029170del , CM000673.2:g.119029169_119029170del GRCh38
NC_000011.9:g.118899879_118899880del , CM000673.1:g.118899879_118899880del GRCh37
NC_000011.8:g.118405089_118405090del NCBI36
NG_013331.1:g.6741_6742del , LRG_187:g.6741_6742del

Transcript Alleles

HGVS Amino-acid change
ENST00000529510.6:n.377+56_377+57del
ENST00000697846.1:n.377+56_377+57del
ENST00000697847.1:n.377+56_377+57del
ENST00000697848.1:n.377+56_377+57del
ENST00000697849.1:n.677_678del
ENST00000697850.1:n.377+56_377+57del
ENST00000697851.1:n.677_678del
ENST00000638186.1:n.451+56_451+57del
ENST00000638360.1:n.385+56_385+57del
ENST00000638925.1:n.384+56_384+57del
ENST00000650539.1:n.553+56_553+57del
ENST00000330775.9:c.148+56_148+57del ENSP00000476242.2:n.148+56_148+57del
ENST00000357590.9:c.148+56_148+57del ENSP00000476176.2:n.148+56_148+57del
ENST00000524428.5:n.148+56_148+57del
ENST00000525039.5:n.571+56_571+57del
ENST00000525102.5:n.905+56_905+57del
ENST00000525372.5:n.148+56_148+57del
ENST00000525787.1:n.443+56_443+57del
ENST00000526626.6:n.343+56_343+57del
ENST00000527992.5:n.375+56_375+57del
ENST00000529510.5:n.166+56_166+57del
ENST00000530407.5:n.197+226_197+227del
ENST00000532085.1:n.1698_1699del
ENST00000532888.6:n.343+56_343+57del
ENST00000534384.1:n.368+56_368+57del
ENST00000538950.5:c.-172+226_-172+227del ENSP00000475991.2:n.-172+226_-172+227del
ENST00000545985.5:c.148+56_148+57del ENSP00000475241.2:n.148+56_148+57del
NM_001164277.1:c.148+56_148+57del , LRG_187t1:c.148+56_148+57del NP_001157749.1:n.148+56_148+57del
NM_001164278.1:c.148+56_148+57del NP_001157750.1:n.148+56_148+57del
NM_001164279.1:c.-172+226_-172+227del NP_001157751.1:n.-172+226_-172+227del
NM_001164280.1:c.148+56_148+57del NP_001157752.1:n.148+56_148+57del
NM_001467.5:c.148+56_148+57del NP_001458.1:n.148+56_148+57del
NM_001164278.2:c.148+56_148+57del NP_001157750.1:n.148+56_148+57del
NM_001164279.2:c.-172+226_-172+227del NP_001157751.1:n.-172+226_-172+227del
NM_001164280.2:c.148+56_148+57del NP_001157752.1:n.148+56_148+57del
NM_001467.6:c.148+56_148+57del NP_001458.1:n.148+56_148+57del
NM_001164277.2:c.148+56_148+57del MANE Select NP_001157749.1:n.148+56_148+57del