Canonical Allele Identifier: CA942773387

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1943627762
• gnomAD v3: 11-119028058-CAAT-C
• gnomAD v4: 11-119028058-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028060_119028062del , CM000673.2:g.119028060_119028062del	GRCh38
NC_000011.9:g.118898770_118898772del , CM000673.1:g.118898770_118898772del	GRCh37
NC_000011.8:g.118403980_118403982del	NCBI36
NG_013331.1:g.7846_7848del , LRG_187:g.7846_7848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.610+133_610+135del
ENST00000697845.1:n.534+133_534+135del
ENST00000697846.1:n.610+133_610+135del
ENST00000697847.1:n.610+133_610+135del
ENST00000697848.1:n.610+133_610+135del
ENST00000697849.1:n.1649+133_1649+135del
ENST00000697850.1:n.610+133_610+135del
ENST00000697851.1:n.1782_1784del
ENST00000638186.1:n.684+133_684+135del
ENST00000638360.1:n.618+133_618+135del
ENST00000638925.1:n.617+133_617+135del
ENST00000650539.1:n.786+133_786+135del
ENST00000330775.9:c.381+133_381+135del	ENSP00000476242.2:n.381+133_381+135del
ENST00000357590.9:c.381+133_381+135del	ENSP00000476176.2:n.381+133_381+135del
ENST00000524428.5:n.514_516del
ENST00000525039.5:n.804+133_804+135del
ENST00000525102.5:n.1138+133_1138+135del
ENST00000525372.5:n.381+133_381+135del
ENST00000525787.1:n.809_811del
ENST00000526275.5:n.974_976del
ENST00000526626.6:n.344-189_344-187del
ENST00000527992.5:n.608+133_608+135del
ENST00000529510.5:n.399+133_399+135del
ENST00000530407.5:n.530+133_530+135del
ENST00000532085.1:n.2803_2805del
ENST00000532888.6:n.676+133_676+135del
ENST00000538950.5:c.162+133_162+135del	ENSP00000475991.2:n.162+133_162+135del
ENST00000545985.5:c.381+133_381+135del	ENSP00000475241.2:n.381+133_381+135del
NM_001164277.1:c.381+133_381+135del , LRG_187t1:c.381+133_381+135del	NP_001157749.1:n.381+133_381+135del
NM_001164278.1:c.381+133_381+135del	NP_001157750.1:n.381+133_381+135del
NM_001164279.1:c.162+133_162+135del	NP_001157751.1:n.162+133_162+135del
NM_001164280.1:c.381+133_381+135del	NP_001157752.1:n.381+133_381+135del
NM_001467.5:c.381+133_381+135del	NP_001458.1:n.381+133_381+135del
NM_001164278.2:c.381+133_381+135del	NP_001157750.1:n.381+133_381+135del
NM_001164279.2:c.162+133_162+135del	NP_001157751.1:n.162+133_162+135del
NM_001164280.2:c.381+133_381+135del	NP_001157752.1:n.381+133_381+135del
NM_001467.6:c.381+133_381+135del	NP_001458.1:n.381+133_381+135del
NM_001164277.2:c.381+133_381+135del MANE Select	NP_001157749.1:n.381+133_381+135del