Canonical Allele Identifier: CA2616335136

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119027085-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027087del , CM000673.2:g.119027087del	GRCh38
NC_000011.9:g.118897797del , CM000673.1:g.118897797del	GRCh37
NC_000011.8:g.118403007del	NCBI36
NG_013331.1:g.8820del , LRG_187:g.8820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.865del
ENST00000697845.1:n.789del
ENST00000697846.1:n.865del
ENST00000697847.1:n.865del
ENST00000697848.1:n.865del
ENST00000697849.1:n.1904del
ENST00000697850.1:n.865del
ENST00000697851.1:n.2225del
ENST00000638186.1:n.939del
ENST00000638360.1:n.771del
ENST00000638925.1:n.872del
ENST00000650539.1:n.1041del
ENST00000330775.9:c.635del	ENSP00000476242.2:p.Lys212ArgfsTer28
ENST00000357590.9:c.635del	ENSP00000476176.2:p.Lys212ArgfsTer28
ENST00000524428.5:n.957del
ENST00000525039.5:n.1059del
ENST00000525102.5:n.1393del
ENST00000525372.5:n.636del
ENST00000526275.5:n.1417del
ENST00000526626.6:n.598del
ENST00000527992.5:n.863del
ENST00000529510.5:n.409del
ENST00000530407.5:n.785del
ENST00000532085.1:n.3246del
ENST00000532888.6:n.931del
ENST00000538950.5:c.416del	ENSP00000475991.2:p.Lys139ArgfsTer28
ENST00000545985.5:c.635del	ENSP00000475241.2:p.Lys212ArgfsTer28
NM_001164277.1:c.635del , LRG_187t1:c.635del	NP_001157749.1:p.Lys212ArgfsTer28
NM_001164278.1:c.635del	NP_001157750.1:p.Lys212ArgfsTer28
NM_001164279.1:c.416del	NP_001157751.1:p.Lys139ArgfsTer28
NM_001164280.1:c.635del	NP_001157752.1:p.Lys212ArgfsTer28
NM_001467.5:c.635del	NP_001458.1:p.Lys212ArgfsTer28
NM_001164278.2:c.635del	NP_001157750.1:p.Lys212ArgfsTer28
NM_001164279.2:c.416del	NP_001157751.1:p.Lys139ArgfsTer28
NM_001164280.2:c.635del	NP_001157752.1:p.Lys212ArgfsTer28
NM_001467.6:c.635del	NP_001458.1:p.Lys212ArgfsTer28
NM_001164277.2:c.635del MANE Select	NP_001157749.1:p.Lys212ArgfsTer28