Canonical Allele Identifier: CA2616334820

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026664-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026666del , CM000673.2:g.119026666del	GRCh38
NC_000011.9:g.118897376del , CM000673.1:g.118897376del	GRCh37
NC_000011.8:g.118402586del	NCBI36
NG_013331.1:g.9241del , LRG_187:g.9241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+272del
ENST00000697845.1:n.1210del
ENST00000697846.1:n.1014+272del
ENST00000697847.1:n.1038del
ENST00000697848.1:n.1038del
ENST00000697849.1:n.2325del
ENST00000697850.1:n.1038del
ENST00000697851.1:n.2646del
ENST00000638186.1:n.1112del
ENST00000638360.1:n.944del
ENST00000638925.1:n.1045del
ENST00000650539.1:n.1214del
ENST00000330775.9:c.808del	ENSP00000476242.2:p.Glu270LysfsTer6
ENST00000357590.9:c.808del	ENSP00000476176.2:p.Glu270LysfsTer6
ENST00000524428.5:n.1106+272del
ENST00000525039.5:n.1232del
ENST00000525102.5:n.1566del
ENST00000525372.5:n.809del
ENST00000526275.5:n.1590del
ENST00000527992.5:n.1036del
ENST00000529510.5:n.558+272del
ENST00000530407.5:n.958del
ENST00000532085.1:n.3667del
ENST00000538950.5:c.589del	ENSP00000475991.2:p.Glu197LysfsTer6
ENST00000545985.5:c.808del	ENSP00000475241.2:p.Glu270LysfsTer6
NM_001164277.1:c.808del , LRG_187t1:c.808del	NP_001157749.1:p.Glu270LysfsTer6
NM_001164278.1:c.808del	NP_001157750.1:p.Glu270LysfsTer6
NM_001164279.1:c.589del	NP_001157751.1:p.Glu197LysfsTer6
NM_001164280.1:c.808del	NP_001157752.1:p.Glu270LysfsTer6
NM_001467.5:c.808del	NP_001458.1:p.Glu270LysfsTer6
NM_001164278.2:c.808del	NP_001157750.1:p.Glu270LysfsTer6
NM_001164279.2:c.589del	NP_001157751.1:p.Glu197LysfsTer6
NM_001164280.2:c.808del	NP_001157752.1:p.Glu270LysfsTer6
NM_001467.6:c.808del	NP_001458.1:p.Glu270LysfsTer6
NM_001164277.2:c.808del MANE Select	NP_001157749.1:p.Glu270LysfsTer6