Canonical Allele Identifier: CA602178121

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1448637799
• gnomAD v2: 11-118901077-C-CAATT
• gnomAD v3: 11-119030367-C-CAATT
• gnomAD v4: 11-119030367-C-CAATT
• MyVariant Identifiers: chr11:g.118901077_118901078insAATT (hg19) ; chr11:g.119030367_119030368insAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119030368_119030371dup , CM000673.2:g.119030368_119030371dup	GRCh38
NC_000011.9:g.118901078_118901081dup , CM000673.1:g.118901078_118901081dup	GRCh37
NC_000011.8:g.118406288_118406291dup	NCBI36
NG_013331.1:g.5536_5539dup , LRG_187:g.5536_5539dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.34+478_34+481dup
ENST00000697846.1:n.34+478_34+481dup
ENST00000697847.1:n.34+478_34+481dup
ENST00000697848.1:n.34+478_34+481dup
ENST00000697850.1:n.34+478_34+481dup
ENST00000638360.1:n.42+478_42+481dup
ENST00000638925.1:n.41+478_41+481dup
ENST00000650539.1:n.9_12dup
ENST00000330775.9:c.-196+478_-196+481dup	ENSP00000476242.2:n.-196+478_-196+481dup
ENST00000357590.9:c.-196+177_-196+180dup	ENSP00000476176.2:n.-196+177_-196+180dup
ENST00000525039.5:n.228+177_228+180dup
ENST00000525102.5:n.423_426dup
ENST00000527992.5:n.32+478_32+481dup
ENST00000530407.5:n.24+478_24+481dup
ENST00000532085.1:n.493_496dup
ENST00000538950.5:c.-345+478_-345+481dup	ENSP00000475991.2:n.-345+478_-345+481dup
ENST00000545985.5:c.-335_-332dup	ENSP00000475241.2:n.-335_-332dup
NM_001164277.1:c.-335_-332dup , LRG_187t1:c.-335_-332dup	NP_001157749.1:n.-335_-332dup
NM_001164278.1:c.-196+177_-196+180dup	NP_001157750.1:n.-196+177_-196+180dup
NM_001164279.1:c.-345+478_-345+481dup	NP_001157751.1:n.-345+478_-345+481dup
NM_001467.5:c.-196+478_-196+481dup	NP_001458.1:n.-196+478_-196+481dup
NM_001164278.2:c.-196+177_-196+180dup	NP_001157750.1:n.-196+177_-196+180dup
NM_001164279.2:c.-345+478_-345+481dup	NP_001157751.1:n.-345+478_-345+481dup
NM_001467.6:c.-196+478_-196+481dup	NP_001458.1:n.-196+478_-196+481dup
NM_001164277.2:c.-335_-332dup MANE Select	NP_001157749.1:n.-335_-332dup