Canonical Allele Identifier: CA229597029

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1444451
• ClinVar RCV Id: RCV001992358
• dbSNP Id: rs1001301633
• gnomAD v4: 11-119025969-TG-T
• MyVariant Identifiers: chr11:g.118896680del (hg19) ; chr11:g.119025970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025974del , CM000673.2:g.119025974del	GRCh38
NC_000011.9:g.118896684del , CM000673.1:g.118896684del	GRCh37
NC_000011.8:g.118401894del	NCBI36
NG_013331.1:g.9936del , LRG_187:g.9936del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1125del
ENST00000697845.1:n.1905del
ENST00000697846.1:n.1125del
ENST00000697847.1:n.1202-213del
ENST00000697848.1:n.1211del
ENST00000697849.1:n.3020del
ENST00000697850.1:n.1211del
ENST00000697851.1:n.2819del
ENST00000638186.1:n.1285del
ENST00000638360.1:n.1117del
ENST00000638925.1:n.1250del
ENST00000650539.1:n.1387del
ENST00000330775.9:c.981del	ENSP00000476242.2:p.Lys328SerfsTer25
ENST00000357590.9:c.981del	ENSP00000476176.2:p.Lys328ArgfsTer?
ENST00000524428.5:n.1217del
ENST00000525039.5:n.1405del
ENST00000525102.5:n.1739del
ENST00000525372.5:n.1079del
ENST00000526275.5:n.1763del
ENST00000527992.5:n.1209del
ENST00000529510.5:n.669del
ENST00000530407.5:n.1131del
ENST00000532085.1:n.4362del
ENST00000538950.5:c.762del	ENSP00000475991.2:p.Lys255SerfsTer25
ENST00000545985.5:c.981del	ENSP00000475241.2:p.Lys328SerfsTer25
NM_001164277.1:c.981del , LRG_187t1:c.981del	NP_001157749.1:p.Lys328SerfsTer25
NM_001164278.1:c.981del	NP_001157750.1:p.Lys328ArgfsTer?
NM_001164279.1:c.762del	NP_001157751.1:p.Lys255SerfsTer25
NM_001164280.1:c.981del	NP_001157752.1:p.Lys328SerfsTer25
NM_001467.5:c.981del	NP_001458.1:p.Lys328SerfsTer25
NM_001164278.2:c.981del	NP_001157750.1:p.Lys328ArgfsTer?
NM_001164279.2:c.762del	NP_001157751.1:p.Lys255SerfsTer25
NM_001164280.2:c.981del	NP_001157752.1:p.Lys328SerfsTer25
NM_001467.6:c.981del	NP_001458.1:p.Lys328SerfsTer25
NM_001164277.2:c.981del MANE Select	NP_001157749.1:p.Lys328SerfsTer25