Canonical Allele Identifier: CA602178100

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1416795345
• gnomAD v2: 11-118900654-C-CA
• gnomAD v3: 11-119029944-C-CA
• gnomAD v4: 11-119029944-C-CA
• MyVariant Identifiers: chr11:g.118900654_118900655insA (hg19) ; chr11:g.119029944_119029945insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029945dup , CM000673.2:g.119029945dup	GRCh38
NC_000011.9:g.118900655dup , CM000673.1:g.118900655dup	GRCh37
NC_000011.8:g.118405865dup	NCBI36
NG_013331.1:g.5962dup , LRG_187:g.5962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.35-381dup
ENST00000697846.1:n.35-381dup
ENST00000697847.1:n.35-381dup
ENST00000697848.1:n.35-381dup
ENST00000697850.1:n.35-381dup
ENST00000638186.1:n.30dup
ENST00000638360.1:n.43-381dup
ENST00000638925.1:n.42-381dup
ENST00000650539.1:n.210+225dup
ENST00000330775.9:c.-195-381dup	ENSP00000476242.2:n.-195-381dup
ENST00000357590.9:c.-195-381dup	ENSP00000476176.2:n.-195-381dup
ENST00000525039.5:n.229-381dup
ENST00000525102.5:n.562+287dup
ENST00000527992.5:n.33-381dup
ENST00000530407.5:n.25-381dup
ENST00000532085.1:n.919dup
ENST00000538950.5:c.-344-381dup	ENSP00000475991.2:n.-344-381dup
ENST00000545985.5:c.-196+287dup	ENSP00000475241.2:n.-196+287dup
NM_001164277.1:c.-196+287dup , LRG_187t1:c.-196+287dup	NP_001157749.1:n.-196+287dup
NM_001164278.1:c.-195-381dup	NP_001157750.1:n.-195-381dup
NM_001164279.1:c.-344-381dup	NP_001157751.1:n.-344-381dup
NM_001467.5:c.-195-381dup	NP_001458.1:n.-195-381dup
NM_001164278.2:c.-195-381dup	NP_001157750.1:n.-195-381dup
NM_001164279.2:c.-344-381dup	NP_001157751.1:n.-344-381dup
NM_001467.6:c.-195-381dup	NP_001458.1:n.-195-381dup
NM_001164277.2:c.-196+287dup MANE Select	NP_001157749.1:n.-196+287dup