Canonical Allele Identifier: CA658823054

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 553530
• ClinVar RCV Id: RCV000669001
• dbSNP Id: rs1555191005
• gnomAD v3: 11-119026703-TGTG-T
• gnomAD v4: 11-119026703-TGTG-T
• MyVariant Identifiers: chr11:g.119026704_119026706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026708_119026710del , CM000673.2:g.119026708_119026710del	GRCh38
NC_000011.9:g.118897418_118897420del , CM000673.1:g.118897418_118897420del	GRCh37
NC_000011.8:g.118402628_118402630del	NCBI36
NG_013331.1:g.9200_9202del , LRG_187:g.9200_9202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1014+231_1014+233del
ENST00000697845.1:n.1169_1171del
ENST00000697846.1:n.1014+231_1014+233del
ENST00000697847.1:n.1015-18_1015-16del
ENST00000697848.1:n.1015-18_1015-16del
ENST00000697849.1:n.2284_2286del
ENST00000697850.1:n.1015-18_1015-16del
ENST00000697851.1:n.2605_2607del
ENST00000638186.1:n.1089-18_1089-16del
ENST00000638360.1:n.921-18_921-16del
ENST00000638925.1:n.1022-18_1022-16del
ENST00000650539.1:n.1191-18_1191-16del
ENST00000330775.9:c.785-18_785-16del	ENSP00000476242.2:n.785-18_785-16del
ENST00000357590.9:c.785-18_785-16del	ENSP00000476176.2:n.785-18_785-16del
ENST00000524428.5:n.1106+231_1106+233del
ENST00000525039.5:n.1209-18_1209-16del
ENST00000525102.5:n.1543-18_1543-16del
ENST00000525372.5:n.786-18_786-16del
ENST00000526275.5:n.1567-18_1567-16del
ENST00000527992.5:n.1013-18_1013-16del
ENST00000529510.5:n.558+231_558+233del
ENST00000530407.5:n.935-18_935-16del
ENST00000532085.1:n.3626_3628del
ENST00000532888.6:n.1311_1313del
ENST00000538950.5:c.566-18_566-16del	ENSP00000475991.2:n.566-18_566-16del
ENST00000545985.5:c.785-18_785-16del	ENSP00000475241.2:n.785-18_785-16del
NM_001164277.1:c.785-18_785-16del , LRG_187t1:c.785-18_785-16del	NP_001157749.1:n.785-18_785-16del
NM_001164278.1:c.785-18_785-16del	NP_001157750.1:n.785-18_785-16del
NM_001164279.1:c.566-18_566-16del	NP_001157751.1:n.566-18_566-16del
NM_001164280.1:c.785-18_785-16del	NP_001157752.1:n.785-18_785-16del
NM_001467.5:c.785-18_785-16del	NP_001458.1:n.785-18_785-16del
NM_001164278.2:c.785-18_785-16del	NP_001157750.1:n.785-18_785-16del
NM_001164279.2:c.566-18_566-16del	NP_001157751.1:n.566-18_566-16del
NM_001164280.2:c.785-18_785-16del	NP_001157752.1:n.785-18_785-16del
NM_001467.6:c.785-18_785-16del	NP_001458.1:n.785-18_785-16del
NM_001164277.2:c.785-18_785-16del MANE Select	NP_001157749.1:n.785-18_785-16del