Canonical Allele Identifier: CA2975979775
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119026641_119026642insCGCA , CM000673.2:g.119026641_119026642insCGCA GRCh38
NC_000011.9:g.118897351_118897352insCGCA , CM000673.1:g.118897351_118897352insCGCA GRCh37
NC_000011.8:g.118402561_118402562insCGCA NCBI36
NG_013331.1:g.9264_9265insTGCG , LRG_187:g.9264_9265insTGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1014+295_1014+296insTGCG
ENST00000697845.1:n.1233_1234insTGCG
ENST00000697846.1:n.1014+295_1014+296insTGCG
ENST00000697847.1:n.1061_1062insTGCG
ENST00000697848.1:n.1061_1062insTGCG
ENST00000697849.1:n.2348_2349insTGCG
ENST00000697850.1:n.1061_1062insTGCG
ENST00000697851.1:n.2669_2670insTGCG
ENST00000638186.1:n.1135_1136insTGCG
ENST00000638360.1:n.967_968insTGCG
ENST00000638925.1:n.1068_1069insTGCG
ENST00000650539.1:n.1237_1238insTGCG
ENST00000330775.9:c.831_832insTGCG ENSP00000476242.2:p.Ile278CysfsTer?
ENST00000357590.9:c.831_832insTGCG ENSP00000476176.2:p.Ile278CysfsTer?
ENST00000524428.5:n.1106+295_1106+296insTGCG
ENST00000525039.5:n.1255_1256insTGCG
ENST00000525102.5:n.1589_1590insTGCG
ENST00000525372.5:n.832_833insTGCG
ENST00000526275.5:n.1613_1614insTGCG
ENST00000527992.5:n.1059_1060insTGCG
ENST00000529510.5:n.558+295_558+296insTGCG
ENST00000530407.5:n.981_982insTGCG
ENST00000532085.1:n.3690_3691insTGCG
ENST00000538950.5:c.612_613insTGCG ENSP00000475991.2:p.Ile205CysfsTer?
ENST00000545985.5:c.831_832insTGCG ENSP00000475241.2:p.Ile278CysfsTer?
NM_001164277.1:c.831_832insTGCG , LRG_187t1:c.831_832insTGCG NP_001157749.1:p.Ile278CysfsTer?
NM_001164278.1:c.831_832insTGCG NP_001157750.1:p.Ile278CysfsTer?
NM_001164279.1:c.612_613insTGCG NP_001157751.1:p.Ile205CysfsTer?
NM_001164280.1:c.831_832insTGCG NP_001157752.1:p.Ile278CysfsTer?
NM_001467.5:c.831_832insTGCG NP_001458.1:p.Ile278CysfsTer?
NM_001164278.2:c.831_832insTGCG NP_001157750.1:p.Ile278CysfsTer?
NM_001164279.2:c.612_613insTGCG NP_001157751.1:p.Ile205CysfsTer?
NM_001164280.2:c.831_832insTGCG NP_001157752.1:p.Ile278CysfsTer?
NM_001467.6:c.831_832insTGCG NP_001458.1:p.Ile278CysfsTer?
NM_001164277.2:c.831_832insTGCG MANE Select NP_001157749.1:p.Ile278CysfsTer?