Canonical Allele Identifier: CA2573146959

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1426093
• ClinVar RCV Id: RCV001929223
• dbSNP Id: rs2134644472

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029359del , CM000673.2:g.119029359del	GRCh38
NC_000011.9:g.118900069del , CM000673.1:g.118900069del	GRCh37
NC_000011.8:g.118405279del	NCBI36
NG_013331.1:g.6548del , LRG_187:g.6548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.240del
ENST00000697846.1:n.240del
ENST00000697847.1:n.240del
ENST00000697848.1:n.240del
ENST00000697849.1:n.484del
ENST00000697850.1:n.240del
ENST00000697851.1:n.484del
ENST00000638186.1:n.314del
ENST00000638360.1:n.248del
ENST00000638925.1:n.247del
ENST00000650539.1:n.416del
ENST00000330775.9:c.11del	ENSP00000476242.2:p.Gln4ArgfsTer9
ENST00000357590.9:c.11del	ENSP00000476176.2:p.Gln4ArgfsTer9
ENST00000524428.5:n.11del
ENST00000525039.5:n.434del
ENST00000525102.5:n.768del
ENST00000525372.5:n.11del
ENST00000525787.1:n.306del
ENST00000526626.6:n.206del
ENST00000527992.5:n.238del
ENST00000529510.5:n.29del
ENST00000530407.5:n.197+33del
ENST00000532085.1:n.1505del
ENST00000532888.6:n.206del
ENST00000534384.1:n.231del
ENST00000538950.5:c.-172+33del	ENSP00000475991.2:n.-172+33del
ENST00000545985.5:c.11del	ENSP00000475241.2:p.Gln4ArgfsTer9
NM_001164277.1:c.11del , LRG_187t1:c.11del	NP_001157749.1:p.Gln4ArgfsTer9
NM_001164278.1:c.11del	NP_001157750.1:p.Gln4ArgfsTer9
NM_001164279.1:c.-172+33del	NP_001157751.1:n.-172+33del
NM_001164280.1:c.11del	NP_001157752.1:p.Gln4ArgfsTer9
NM_001467.5:c.11del	NP_001458.1:p.Gln4ArgfsTer9
NM_001164278.2:c.11del	NP_001157750.1:p.Gln4ArgfsTer9
NM_001164279.2:c.-172+33del	NP_001157751.1:n.-172+33del
NM_001164280.2:c.11del	NP_001157752.1:p.Gln4ArgfsTer9
NM_001467.6:c.11del	NP_001458.1:p.Gln4ArgfsTer9
NM_001164277.2:c.11del MANE Select	NP_001157749.1:p.Gln4ArgfsTer9