Canonical Allele Identifier: CA6311612

Gene: SLC37A4 TRAPPC4

Linked Data

• ExAC: 11:118895786 ACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTAC / A
• gnomAD v2: 11-118895786-ACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTAC-A
• gnomAD v3: 11-119025076-ACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTAC-A
• gnomAD v4: 11-119025076-ACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTAC-A
• MyVariant Identifiers: chr11:g.118895787_118895900del (hg19) ; chr11:g.119025077_119025190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025078_119025191del , CM000673.2:g.119025078_119025191del	GRCh38
NC_000011.9:g.118895788_118895901del , CM000673.1:g.118895788_118895901del	GRCh37
NC_000011.8:g.118400998_118401111del	NCBI36
NG_013331.1:g.10716_10829del , LRG_187:g.10716_10829del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1333+1_1334-1del (SLC37A4)
ENST00000697845.1:n.2322+1_2323-1del (SLC37A4)
ENST00000697846.1:n.1695+1_1696-1del (SLC37A4)
ENST00000697847.1:n.1406+1_1407-1del (SLC37A4)
ENST00000697849.1:n.3799+1_3800-1del (SLC37A4)
ENST00000697850.1:n.1990+1_1991-1del (SLC37A4)
ENST00000697851.1:n.2961+1_2962-1del (SLC37A4)
ENST00000638186.1:n.1427+1_1428-1del (SLC37A4)
ENST00000638360.1:n.1259+1_1260-1del (SLC37A4)
ENST00000638925.1:n.1392+1_1393-1del (SLC37A4)
ENST00000650539.1:n.1595+1_1596-1del (SLC37A4)
ENST00000330775.9:c.1123+1_1124-1del (SLC37A4)
ENST00000357590.9:c.1189+1_1190-1del (SLC37A4)
ENST00000524428.5:n.1359+1_1360-1del (SLC37A4)
ENST00000525039.5:n.1613+1_1614-1del (SLC37A4)
ENST00000525102.5:n.1881+1_1882-1del (SLC37A4)
ENST00000525372.5:n.1221+1_1222-1del (SLC37A4)
ENST00000526275.5:n.1905+1_1906-1del (SLC37A4)
ENST00000527992.5:n.1351+1_1352-1del (SLC37A4)
ENST00000530407.5:n.1273+1_1274-1del (SLC37A4)
ENST00000532085.1:n.5141+1_5142-1del (SLC37A4)
ENST00000533058.5:c.*29_*142del (TRAPPC4)	ENSP00000432920.1:n.*29_*142del
ENST00000538950.5:c.904+1_905-1del (SLC37A4)
ENST00000545985.5:c.1123+1_1124-1del (SLC37A4)
NM_001164277.1:c.1123+1_1124-1del , LRG_187t1:c.1123+1_1124-1del (SLC37A4)
NM_001164278.1:c.1189+1_1190-1del (SLC37A4)
NM_001164279.1:c.904+1_905-1del (SLC37A4)
NM_001164280.1:c.1123+1_1124-1del (SLC37A4)
NM_001467.5:c.1123+1_1124-1del (SLC37A4)
NM_001164278.2:c.1189+1_1190-1del (SLC37A4)
NM_001164279.2:c.904+1_905-1del (SLC37A4)
NM_001164280.2:c.1123+1_1124-1del (SLC37A4)
NM_001467.6:c.1123+1_1124-1del (SLC37A4)
NM_001164277.2:c.1123+1_1124-1del (SLC37A4)