Canonical Allele Identifier: CA1139662375

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 963100
• ClinVar RCV Id: RCV001237077
• dbSNP Id: rs1943554955

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025995del , CM000673.2:g.119025995del	GRCh38
NC_000011.9:g.118896705del , CM000673.1:g.118896705del	GRCh37
NC_000011.8:g.118401915del	NCBI36
NG_013331.1:g.9913del , LRG_187:g.9913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1102del
ENST00000697845.1:n.1882del
ENST00000697846.1:n.1102del
ENST00000697847.1:n.1202-236del
ENST00000697848.1:n.1188del
ENST00000697849.1:n.2997del
ENST00000697850.1:n.1188del
ENST00000697851.1:n.2796del
ENST00000638186.1:n.1262del
ENST00000638360.1:n.1094del
ENST00000638925.1:n.1227del
ENST00000650539.1:n.1364del
ENST00000330775.9:c.958del	ENSP00000476242.2:p.Val320Ter
ENST00000357590.9:c.958del	ENSP00000476176.2:p.Val320Ter
ENST00000524428.5:n.1194del
ENST00000525039.5:n.1382del
ENST00000525102.5:n.1716del
ENST00000525372.5:n.1056del
ENST00000526275.5:n.1740del
ENST00000527992.5:n.1186del
ENST00000529510.5:n.646del
ENST00000530407.5:n.1108del
ENST00000532085.1:n.4339del
ENST00000538950.5:c.739del	ENSP00000475991.2:p.Val247Ter
ENST00000545985.5:c.958del	ENSP00000475241.2:p.Val320Ter
NM_001164277.1:c.958del , LRG_187t1:c.958del	NP_001157749.1:p.Val320Ter
NM_001164278.1:c.958del	NP_001157750.1:p.Val320Ter
NM_001164279.1:c.739del	NP_001157751.1:p.Val247Ter
NM_001164280.1:c.958del	NP_001157752.1:p.Val320Ter
NM_001467.5:c.958del	NP_001458.1:p.Val320Ter
NM_001164278.2:c.958del	NP_001157750.1:p.Val320Ter
NM_001164279.2:c.739del	NP_001157751.1:p.Val247Ter
NM_001164280.2:c.958del	NP_001157752.1:p.Val320Ter
NM_001467.6:c.958del	NP_001458.1:p.Val320Ter
NM_001164277.2:c.958del MANE Select	NP_001157749.1:p.Val320Ter