Canonical Allele Identifier: CA672396999

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1403163343
• gnomAD v4: 11-119028983-T-TC
• MyVariant Identifiers: chr11:g.118899693_118899694insC (hg19) ; chr11:g.119028983_119028984insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028984dup , CM000673.2:g.119028984dup	GRCh38
NC_000011.9:g.118899694dup , CM000673.1:g.118899694dup	GRCh37
NC_000011.8:g.118404904dup	NCBI36
NG_013331.1:g.6923dup , LRG_187:g.6923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.377+238dup
ENST00000697846.1:n.377+238dup
ENST00000697847.1:n.377+238dup
ENST00000697848.1:n.377+238dup
ENST00000697849.1:n.859dup
ENST00000697850.1:n.377+238dup
ENST00000697851.1:n.859dup
ENST00000638186.1:n.451+238dup
ENST00000638360.1:n.385+238dup
ENST00000638925.1:n.384+238dup
ENST00000650539.1:n.553+238dup
ENST00000330775.9:c.148+238dup	ENSP00000476242.2:n.148+238dup
ENST00000357590.9:c.148+238dup	ENSP00000476176.2:n.148+238dup
ENST00000524428.5:n.148+238dup
ENST00000525039.5:n.571+238dup
ENST00000525102.5:n.905+238dup
ENST00000525372.5:n.148+238dup
ENST00000525787.1:n.443+238dup
ENST00000526275.5:n.51dup
ENST00000526626.6:n.343+238dup
ENST00000527992.5:n.375+238dup
ENST00000529510.5:n.166+238dup
ENST00000530407.5:n.198-150dup
ENST00000532085.1:n.1880dup
ENST00000532888.6:n.344-150dup
ENST00000534384.1:n.368+238dup
ENST00000538950.5:c.-171-150dup	ENSP00000475991.2:n.-171-150dup
ENST00000545985.5:c.148+238dup	ENSP00000475241.2:n.148+238dup
NM_001164277.1:c.148+238dup , LRG_187t1:c.148+238dup	NP_001157749.1:n.148+238dup
NM_001164278.1:c.148+238dup	NP_001157750.1:n.148+238dup
NM_001164279.1:c.-171-150dup	NP_001157751.1:n.-171-150dup
NM_001164280.1:c.148+238dup	NP_001157752.1:n.148+238dup
NM_001467.5:c.148+238dup	NP_001458.1:n.148+238dup
NM_001164278.2:c.148+238dup	NP_001157750.1:n.148+238dup
NM_001164279.2:c.-171-150dup	NP_001157751.1:n.-171-150dup
NM_001164280.2:c.148+238dup	NP_001157752.1:n.148+238dup
NM_001467.6:c.148+238dup	NP_001458.1:n.148+238dup
NM_001164277.2:c.148+238dup MANE Select	NP_001157749.1:n.148+238dup