Canonical Allele Identifier: CA602577616

Gene: SLC37A4 TRAPPC4

Linked Data

• dbSNP Id: rs1565686079
• gnomAD v2: 11-118895825-T-TAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTA
• gnomAD v4: 11-119025115-T-TAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTA
• MyVariant Identifiers: chr11:g.118895825_118895826insAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025117_119025183dup , CM000673.2:g.119025117_119025183dup	GRCh38
NC_000011.9:g.118895827_118895893dup , CM000673.1:g.118895827_118895893dup	GRCh37
NC_000011.8:g.118401037_118401103dup	NCBI36
NG_013331.1:g.10724_10790dup , LRG_187:g.10724_10790dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1333+9_1334-40dup (SLC37A4)
ENST00000697845.1:n.2322+9_2323-40dup (SLC37A4)
ENST00000697846.1:n.1695+9_1696-40dup (SLC37A4)
ENST00000697847.1:n.1406+9_1407-40dup (SLC37A4)
ENST00000697849.1:n.3799+9_3800-40dup (SLC37A4)
ENST00000697850.1:n.1990+9_1991-40dup (SLC37A4)
ENST00000697851.1:n.2961+9_2962-40dup (SLC37A4)
ENST00000638186.1:n.1427+9_1428-40dup (SLC37A4)
ENST00000638360.1:n.1259+9_1260-40dup (SLC37A4)
ENST00000638925.1:n.1392+9_1393-40dup (SLC37A4)
ENST00000650539.1:n.1595+9_1596-40dup (SLC37A4)
ENST00000330775.9:c.1123+9_1124-40dup (SLC37A4)	ENSP00000476242.2:n.1123+9_1124-40dup
ENST00000357590.9:c.1189+9_1190-40dup (SLC37A4)	ENSP00000476176.2:n.1189+9_1190-40dup
ENST00000524428.5:n.1359+9_1360-40dup (SLC37A4)
ENST00000525039.5:n.1613+9_1614-40dup (SLC37A4)
ENST00000525102.5:n.1881+9_1882-40dup (SLC37A4)
ENST00000525372.5:n.1221+9_1222-40dup (SLC37A4)
ENST00000526275.5:n.1905+9_1906-40dup (SLC37A4)
ENST00000527992.5:n.1351+9_1352-40dup (SLC37A4)
ENST00000530407.5:n.1273+9_1274-40dup (SLC37A4)
ENST00000532085.1:n.5141+9_5142-40dup (SLC37A4)
ENST00000533058.5:c.*68_*134dup (TRAPPC4)	ENSP00000432920.1:n.*68_*134dup
ENST00000538950.5:c.904+9_905-40dup (SLC37A4)	ENSP00000475991.2:n.904+9_905-40dup
ENST00000545985.5:c.1123+9_1124-40dup (SLC37A4)	ENSP00000475241.2:n.1123+9_1124-40dup
NM_001164277.1:c.1123+9_1124-40dup , LRG_187t1:c.1123+9_1124-40dup (SLC37A4)	NP_001157749.1:n.1123+9_1124-40dup
NM_001164278.1:c.1189+9_1190-40dup (SLC37A4)	NP_001157750.1:n.1189+9_1190-40dup
NM_001164279.1:c.904+9_905-40dup (SLC37A4)	NP_001157751.1:n.904+9_905-40dup
NM_001164280.1:c.1123+9_1124-40dup (SLC37A4)	NP_001157752.1:n.1123+9_1124-40dup
NM_001467.5:c.1123+9_1124-40dup (SLC37A4)	NP_001458.1:n.1123+9_1124-40dup
NM_001164278.2:c.1189+9_1190-40dup (SLC37A4)	NP_001157750.1:n.1189+9_1190-40dup
NM_001164279.2:c.904+9_905-40dup (SLC37A4)	NP_001157751.1:n.904+9_905-40dup
NM_001164280.2:c.1123+9_1124-40dup (SLC37A4)	NP_001157752.1:n.1123+9_1124-40dup
NM_001467.6:c.1123+9_1124-40dup (SLC37A4)	NP_001458.1:n.1123+9_1124-40dup
NM_001164277.2:c.1123+9_1124-40dup (SLC37A4) MANE Select	NP_001157749.1:n.1123+9_1124-40dup