Canonical Allele Identifier: CA2003748815
Gene: SLC37A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 997959
ClinVar RCV Id: RCV001293643
dbSNP Id: rs1943554287

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025987_119026006del , CM000673.2:g.119025987_119026006del GRCh38
NC_000011.9:g.118896697_118896716del , CM000673.1:g.118896697_118896716del GRCh37
NC_000011.8:g.118401907_118401926del NCBI36
NG_013331.1:g.9900_9919del , LRG_187:g.9900_9919del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1089_1108del
ENST00000697845.1:n.1869_1888del
ENST00000697846.1:n.1089_1108del
ENST00000697847.1:n.1202-249_1202-230del
ENST00000697848.1:n.1175_1194del
ENST00000697849.1:n.2984_3003del
ENST00000697850.1:n.1175_1194del
ENST00000697851.1:n.2783_2802del
ENST00000638186.1:n.1249_1268del
ENST00000638360.1:n.1081_1100del
ENST00000638925.1:n.1214_1233del
ENST00000650539.1:n.1351_1370del
ENST00000330775.9:c.945_964del ENSP00000476242.2:p.Met315IlefsTer4
ENST00000357590.9:c.945_964del ENSP00000476176.2:p.Met315IlefsTer4
ENST00000524428.5:n.1181_1200del
ENST00000525039.5:n.1369_1388del
ENST00000525102.5:n.1703_1722del
ENST00000525372.5:n.1043_1062del
ENST00000526275.5:n.1727_1746del
ENST00000527992.5:n.1173_1192del
ENST00000529510.5:n.633_652del
ENST00000530407.5:n.1095_1114del
ENST00000532085.1:n.4326_4345del
ENST00000538950.5:c.726_745del ENSP00000475991.2:p.Met242IlefsTer4
ENST00000545985.5:c.945_964del ENSP00000475241.2:p.Met315IlefsTer4
NM_001164277.1:c.945_964del , LRG_187t1:c.945_964del NP_001157749.1:p.Met315IlefsTer4
NM_001164278.1:c.945_964del NP_001157750.1:p.Met315IlefsTer4
NM_001164279.1:c.726_745del NP_001157751.1:p.Met242IlefsTer4
NM_001164280.1:c.945_964del NP_001157752.1:p.Met315IlefsTer4
NM_001467.5:c.945_964del NP_001458.1:p.Met315IlefsTer4
NM_001164278.2:c.945_964del NP_001157750.1:p.Met315IlefsTer4
NM_001164279.2:c.726_745del NP_001157751.1:p.Met242IlefsTer4
NM_001164280.2:c.945_964del NP_001157752.1:p.Met315IlefsTer4
NM_001467.6:c.945_964del NP_001458.1:p.Met315IlefsTer4
NM_001164277.2:c.945_964del MANE Select NP_001157749.1:p.Met315IlefsTer4