Canonical Allele Identifier: CA602577842

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1565691954
• gnomAD v2: 11-118900025-CA-C
• gnomAD v4: 11-119029315-CA-C
• MyVariant Identifiers: chr11:g.118900026del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029318del , CM000673.2:g.119029318del	GRCh38
NC_000011.9:g.118900028del , CM000673.1:g.118900028del	GRCh37
NC_000011.8:g.118405238del	NCBI36
NG_013331.1:g.6591del , LRG_187:g.6591del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.283del
ENST00000697846.1:n.283del
ENST00000697847.1:n.283del
ENST00000697848.1:n.283del
ENST00000697849.1:n.527del
ENST00000697850.1:n.283del
ENST00000697851.1:n.527del
ENST00000638186.1:n.357del
ENST00000638360.1:n.291del
ENST00000638925.1:n.290del
ENST00000650539.1:n.459del
ENST00000330775.9:c.54del	ENSP00000476242.2:p.Phe18LeufsTer?
ENST00000357590.9:c.54del	ENSP00000476176.2:p.Phe18LeufsTer?
ENST00000524428.5:n.54del
ENST00000525039.5:n.477del
ENST00000525102.5:n.811del
ENST00000525372.5:n.54del
ENST00000525787.1:n.349del
ENST00000526626.6:n.249del
ENST00000527992.5:n.281del
ENST00000529510.5:n.72del
ENST00000530407.5:n.197+76del
ENST00000532085.1:n.1548del
ENST00000532888.6:n.249del
ENST00000534384.1:n.274del
ENST00000538950.5:c.-172+76del	ENSP00000475991.2:n.-172+76del
ENST00000545985.5:c.54del	ENSP00000475241.2:p.Phe18LeufsTer?
NM_001164277.1:c.54del , LRG_187t1:c.54del	NP_001157749.1:p.Phe18LeufsTer?
NM_001164278.1:c.54del	NP_001157750.1:p.Phe18LeufsTer?
NM_001164279.1:c.-172+76del	NP_001157751.1:n.-172+76del
NM_001164280.1:c.54del	NP_001157752.1:p.Phe18LeufsTer?
NM_001467.5:c.54del	NP_001458.1:p.Phe18LeufsTer?
NM_001164278.2:c.54del	NP_001157750.1:p.Phe18LeufsTer?
NM_001164279.2:c.-172+76del	NP_001157751.1:n.-172+76del
NM_001164280.2:c.54del	NP_001157752.1:p.Phe18LeufsTer?
NM_001467.6:c.54del	NP_001458.1:p.Phe18LeufsTer?
NM_001164277.2:c.54del MANE Select	NP_001157749.1:p.Phe18LeufsTer?