Canonical Allele Identifier: CA1139662377

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 971103
• ClinVar RCV Id: RCV001246799
• dbSNP Id: rs1943560243

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026063_119026065delinsTTG , CM000673.2:g.119026063_119026065delinsTTG	GRCh38
NC_000011.9:g.118896773_118896775delinsTTG , CM000673.1:g.118896773_118896775delinsTTG	GRCh37
NC_000011.8:g.118401983_118401985delinsTTG	NCBI36
NG_013331.1:g.9841_9843delinsCAA , LRG_187:g.9841_9843delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1030_1032delinsCAA
ENST00000697845.1:n.1810_1812delinsCAA
ENST00000697846.1:n.1030_1032delinsCAA
ENST00000697847.1:n.1202-308_1202-306delinsCAA
ENST00000697848.1:n.1116_1118delinsCAA
ENST00000697849.1:n.2925_2927delinsCAA
ENST00000697850.1:n.1116_1118delinsCAA
ENST00000697851.1:n.2724_2726delinsCAA
ENST00000638186.1:n.1190_1192delinsCAA
ENST00000638360.1:n.1022_1024delinsCAA
ENST00000638925.1:n.1155_1157delinsCAA
ENST00000650539.1:n.1292_1294delinsCAA
ENST00000330775.9:c.886_888delinsCAA	ENSP00000476242.2:p.Tyr296Gln
ENST00000357590.9:c.886_888delinsCAA	ENSP00000476176.2:p.Tyr296Gln
ENST00000524428.5:n.1122_1124delinsCAA
ENST00000525039.5:n.1310_1312delinsCAA
ENST00000525102.5:n.1644_1646delinsCAA
ENST00000525372.5:n.984_986delinsCAA
ENST00000526275.5:n.1668_1670delinsCAA
ENST00000527992.5:n.1114_1116delinsCAA
ENST00000529510.5:n.574_576delinsCAA
ENST00000530407.5:n.1036_1038delinsCAA
ENST00000532085.1:n.4267_4269delinsCAA
ENST00000538950.5:c.667_669delinsCAA	ENSP00000475991.2:p.Tyr223Gln
ENST00000545985.5:c.886_888delinsCAA	ENSP00000475241.2:p.Tyr296Gln
NM_001164277.1:c.886_888delinsCAA , LRG_187t1:c.886_888delinsCAA	NP_001157749.1:p.Tyr296Gln
NM_001164278.1:c.886_888delinsCAA	NP_001157750.1:p.Tyr296Gln
NM_001164279.1:c.667_669delinsCAA	NP_001157751.1:p.Tyr223Gln
NM_001164280.1:c.886_888delinsCAA	NP_001157752.1:p.Tyr296Gln
NM_001467.5:c.886_888delinsCAA	NP_001458.1:p.Tyr296Gln
NM_001164278.2:c.886_888delinsCAA	NP_001157750.1:p.Tyr296Gln
NM_001164279.2:c.667_669delinsCAA	NP_001157751.1:p.Tyr223Gln
NM_001164280.2:c.886_888delinsCAA	NP_001157752.1:p.Tyr296Gln
NM_001467.6:c.886_888delinsCAA	NP_001458.1:p.Tyr296Gln
NM_001164277.2:c.886_888delinsCAA MANE Select	NP_001157749.1:p.Tyr296Gln