Canonical Allele Identifier: CA6311614

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 550435
• ClinVar RCV Id: RCV000665177
• dbSNP Id: rs782342989
• ExAC: 11:118895791 CAG / C
• gnomAD v2: 11-118895791-CAG-C
• gnomAD v3: 11-119025081-CAG-C
• gnomAD v4: 11-119025081-CAG-C
• MyVariant Identifiers: chr11:g.118895792_118895793del (hg19) ; chr11:g.119025082_119025083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025082_119025083del , CM000673.2:g.119025082_119025083del	GRCh38
NC_000011.9:g.118895792_118895793del , CM000673.1:g.118895792_118895793del	GRCh37
NC_000011.8:g.118401002_118401003del	NCBI36
NG_013331.1:g.10823_10824del , LRG_187:g.10823_10824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1334-7_1334-6del (SLC37A4)
ENST00000697845.1:n.2323-7_2323-6del (SLC37A4)
ENST00000697846.1:n.1696-7_1696-6del (SLC37A4)
ENST00000697847.1:n.1407-7_1407-6del (SLC37A4)
ENST00000697849.1:n.3800-7_3800-6del (SLC37A4)
ENST00000697850.1:n.1991-7_1991-6del (SLC37A4)
ENST00000697851.1:n.2962-7_2962-6del (SLC37A4)
ENST00000638186.1:n.1428-7_1428-6del (SLC37A4)
ENST00000638360.1:n.1260-7_1260-6del (SLC37A4)
ENST00000638925.1:n.1393-7_1393-6del (SLC37A4)
ENST00000650539.1:n.1596-7_1596-6del (SLC37A4)
ENST00000330775.9:c.1124-7_1124-6del (SLC37A4)	ENSP00000476242.2:n.1124-7_1124-6del
ENST00000357590.9:c.1190-7_1190-6del (SLC37A4)	ENSP00000476176.2:n.1190-7_1190-6del
ENST00000524428.5:n.1360-7_1360-6del (SLC37A4)
ENST00000525039.5:n.1614-7_1614-6del (SLC37A4)
ENST00000525102.5:n.1882-7_1882-6del (SLC37A4)
ENST00000525372.5:n.1222-7_1222-6del (SLC37A4)
ENST00000526275.5:n.1906-7_1906-6del (SLC37A4)
ENST00000527992.5:n.1352-7_1352-6del (SLC37A4)
ENST00000530407.5:n.1274-7_1274-6del (SLC37A4)
ENST00000532085.1:n.5142-7_5142-6del (SLC37A4)
ENST00000533058.5:c.*33_*34del (TRAPPC4)	ENSP00000432920.1:n.*33_*34del
ENST00000538950.5:c.905-7_905-6del (SLC37A4)	ENSP00000475991.2:n.905-7_905-6del
ENST00000545985.5:c.1124-7_1124-6del (SLC37A4)	ENSP00000475241.2:n.1124-7_1124-6del
NM_001164277.1:c.1124-7_1124-6del , LRG_187t1:c.1124-7_1124-6del (SLC37A4)	NP_001157749.1:n.1124-7_1124-6del
NM_001164278.1:c.1190-7_1190-6del (SLC37A4)	NP_001157750.1:n.1190-7_1190-6del
NM_001164279.1:c.905-7_905-6del (SLC37A4)	NP_001157751.1:n.905-7_905-6del
NM_001164280.1:c.1124-7_1124-6del (SLC37A4)	NP_001157752.1:n.1124-7_1124-6del
NM_001467.5:c.1124-7_1124-6del (SLC37A4)	NP_001458.1:n.1124-7_1124-6del
NM_001164278.2:c.1190-7_1190-6del (SLC37A4)	NP_001157750.1:n.1190-7_1190-6del
NM_001164279.2:c.905-7_905-6del (SLC37A4)	NP_001157751.1:n.905-7_905-6del
NM_001164280.2:c.1124-7_1124-6del (SLC37A4)	NP_001157752.1:n.1124-7_1124-6del
NM_001467.6:c.1124-7_1124-6del (SLC37A4)	NP_001458.1:n.1124-7_1124-6del
NM_001164277.2:c.1124-7_1124-6del (SLC37A4) MANE Select	NP_001157749.1:n.1124-7_1124-6del