Canonical Allele Identifier: CA2616341582

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119030431-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119030434del , CM000673.2:g.119030434del	GRCh38
NC_000011.9:g.118901144del , CM000673.1:g.118901144del	GRCh37
NC_000011.8:g.118406354del	NCBI36
NG_013331.1:g.5475del , LRG_187:g.5475del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.34+417del
ENST00000697846.1:n.34+417del
ENST00000697847.1:n.34+417del
ENST00000697848.1:n.34+417del
ENST00000697850.1:n.34+417del
ENST00000638360.1:n.42+417del
ENST00000638925.1:n.41+417del
ENST00000330775.9:c.-196+417del	ENSP00000476242.2:n.-196+417del
ENST00000357590.9:c.-196+116del	ENSP00000476176.2:n.-196+116del
ENST00000525039.5:n.228+116del
ENST00000525102.5:n.362del
ENST00000527992.5:n.32+417del
ENST00000530407.5:n.24+417del
ENST00000532085.1:n.432del
ENST00000538950.5:c.-345+417del	ENSP00000475991.2:n.-345+417del
ENST00000545985.5:c.-396del	ENSP00000475241.2:n.-396del
NM_001164277.1:c.-396del , LRG_187t1:c.-396del	NP_001157749.1:n.-396del
NM_001164278.1:c.-196+116del	NP_001157750.1:n.-196+116del
NM_001164279.1:c.-345+417del	NP_001157751.1:n.-345+417del
NM_001467.5:c.-196+417del	NP_001458.1:n.-196+417del
NM_001164278.2:c.-196+116del	NP_001157750.1:n.-196+116del
NM_001164279.2:c.-345+417del	NP_001157751.1:n.-345+417del
NM_001467.6:c.-196+417del	NP_001458.1:n.-196+417del
NM_001164277.2:c.-396del MANE Select	NP_001157749.1:n.-396del