Canonical Allele Identifier: CA4041707

Gene: SUMO4 TAB2

Linked Data

• dbSNP Id: rs776477411
• ExAC: 6:149721564 G / GAGA
• gnomAD v2: 6-149721564-G-GAGA
• MyVariant Identifiers: chr6:g.149721564_149721565insAGA (hg19) ; chr6:g.149400428_149400429insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.149400430_149400432dup , CM000668.2:g.149400430_149400432dup	GRCh38
NC_000006.11:g.149721566_149721568dup , CM000668.1:g.149721566_149721568dup	GRCh37
NC_000006.10:g.149763259_149763261dup	NCBI36
NG_012301.1:g.5072_5074dup
NG_021386.1:g.87131_87133dup
NG_021386.2:g.187507_187509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326669.6:c.39_41dup (SUMO4) MANE Select	ENSP00000318635.4:p.Glu13_Asn14insLys
ENST00000636456.1:c.1087+1246_1087+1248dup (TAB2)	ENSP00000490379.1:n.1087+1246_1087+1248dup
ENST00000637181.2:c.1939+1246_1939+1248dup (TAB2) MANE Select	ENSP00000490618.1:n.1939+1246_1939+1248dup
ENST00000326669.5:c.39_41dup (SUMO4)	ENSP00000318635.4:p.Glu13_Asn14insLys
ENST00000367456.5:c.1939+1246_1939+1248dup (TAB2)	ENSP00000356426.1:n.1939+1246_1939+1248dup
ENST00000470466.5:c.*538+1246_*538+1248dup (TAB2)	ENSP00000432709.1:n.*538+1246_*538+1248dup
ENST00000484505.1:n.452+1246_452+1248dup (TAB2)
ENST00000538427.5:c.1939+1246_1939+1248dup (TAB2)	ENSP00000445752.1:n.1939+1246_1939+1248dup
NM_001002255.1:c.39_41dup (SUMO4)	NP_001002255.1:p.Glu13_Asn14insLys
NM_001292034.2:c.1939+1246_1939+1248dup (TAB2)	NP_001278963.1:n.1939+1246_1939+1248dup
NM_001292035.2:c.1843+1246_1843+1248dup (TAB2)	NP_001278964.1:n.1843+1246_1843+1248dup
NM_015093.5:c.1939+1246_1939+1248dup (TAB2)	NP_055908.1:n.1939+1246_1939+1248dup
XM_006715403.2:c.1939+1246_1939+1248dup (TAB2)	XP_006715466.1:n.1939+1246_1939+1248dup
XM_011535633.1:c.1939+1246_1939+1248dup (TAB2)	XP_011533935.1:n.1939+1246_1939+1248dup
XM_011535634.1:c.1939+1246_1939+1248dup (TAB2)	XP_011533936.1:n.1939+1246_1939+1248dup
XM_011535633.2:c.1939+1246_1939+1248dup (TAB2)	XP_011533935.1:n.1939+1246_1939+1248dup
XM_017010591.1:c.1939+1246_1939+1248dup (TAB2)	XP_016866080.1:n.1939+1246_1939+1248dup
XM_017010592.2:c.1939+1246_1939+1248dup (TAB2)	XP_016866081.1:n.1939+1246_1939+1248dup
NM_001292034.3:c.1939+1246_1939+1248dup (TAB2) MANE Select	NP_001278963.1:n.1939+1246_1939+1248dup
NM_001002255.2:c.39_41dup (SUMO4) MANE Select	NP_001002255.1:p.Glu13_Asn14insLys
NM_001292035.3:c.1843+1246_1843+1248dup (TAB2)	NP_001278964.1:n.1843+1246_1843+1248dup
NM_001369506.1:c.1939+1246_1939+1248dup (TAB2)	NP_001356435.1:n.1939+1246_1939+1248dup
NM_015093.6:c.1939+1246_1939+1248dup (TAB2)	NP_055908.1:n.1939+1246_1939+1248dup