Canonical Allele Identifier: CA2616334952

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026823-GCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026825_119026827del , CM000673.2:g.119026825_119026827del	GRCh38
NC_000011.9:g.118897535_118897537del , CM000673.1:g.118897535_118897537del	GRCh37
NC_000011.8:g.118402745_118402747del	NCBI36
NG_013331.1:g.9080_9082del , LRG_187:g.9080_9082del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1014+111_1014+113del
ENST00000697845.1:n.1049_1051del
ENST00000697846.1:n.1014+111_1014+113del
ENST00000697847.1:n.1014+111_1014+113del
ENST00000697848.1:n.1014+111_1014+113del
ENST00000697849.1:n.2164_2166del
ENST00000697850.1:n.1014+111_1014+113del
ENST00000697851.1:n.2485_2487del
ENST00000638186.1:n.1088+111_1088+113del
ENST00000638360.1:n.920+111_920+113del
ENST00000638925.1:n.1021+111_1021+113del
ENST00000650539.1:n.1190+111_1190+113del
ENST00000330775.9:c.784+111_784+113del	ENSP00000476242.2:n.784+111_784+113del
ENST00000357590.9:c.784+111_784+113del	ENSP00000476176.2:n.784+111_784+113del
ENST00000524428.5:n.1106+111_1106+113del
ENST00000525039.5:n.1208+111_1208+113del
ENST00000525102.5:n.1542+111_1542+113del
ENST00000525372.5:n.785+111_785+113del
ENST00000526275.5:n.1566+111_1566+113del
ENST00000527992.5:n.1012+111_1012+113del
ENST00000529510.5:n.558+111_558+113del
ENST00000530407.5:n.934+111_934+113del
ENST00000532085.1:n.3506_3508del
ENST00000532888.6:n.1191_1193del
ENST00000538950.5:c.565+111_565+113del	ENSP00000475991.2:n.565+111_565+113del
ENST00000545985.5:c.784+111_784+113del	ENSP00000475241.2:n.784+111_784+113del
NM_001164277.1:c.784+111_784+113del , LRG_187t1:c.784+111_784+113del	NP_001157749.1:n.784+111_784+113del
NM_001164278.1:c.784+111_784+113del	NP_001157750.1:n.784+111_784+113del
NM_001164279.1:c.565+111_565+113del	NP_001157751.1:n.565+111_565+113del
NM_001164280.1:c.784+111_784+113del	NP_001157752.1:n.784+111_784+113del
NM_001467.5:c.784+111_784+113del	NP_001458.1:n.784+111_784+113del
NM_001164278.2:c.784+111_784+113del	NP_001157750.1:n.784+111_784+113del
NM_001164279.2:c.565+111_565+113del	NP_001157751.1:n.565+111_565+113del
NM_001164280.2:c.784+111_784+113del	NP_001157752.1:n.784+111_784+113del
NM_001467.6:c.784+111_784+113del	NP_001458.1:n.784+111_784+113del
NM_001164277.2:c.784+111_784+113del MANE Select	NP_001157749.1:n.784+111_784+113del