Canonical Allele Identifier: CA205893

Gene: DLG3 DLG3-AS1

Linked Data

• ClinVar Variation Id: 210850
• ClinVar RCV Id: RCV000192808 ; RCV000514299 ; RCV002390505 ; RCV003955148
• dbSNP Id: rs797045525
• ExAC: X:69674168 TAGG / T
• gnomAD v2: X-69674168-TAGG-T
• gnomAD v3: X-70454318-TAGG-T
• gnomAD v4: X-70454318-TAGG-T
• MyVariant Identifiers: chrX:g.69674171_69674173del (hg19) ; chrX:g.69674169_69674171del (hg19) ; chrX:g.70454321_70454323del (hg38) ; chrX:g.70454320_70454322del (hg38) ; chrX:g.70454319_70454321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.70454321_70454323del , CM000685.2:g.70454321_70454323del	GRCh38
NC_000023.10:g.69674171_69674173del , CM000685.1:g.69674171_69674173del	GRCh37
NC_000023.9:g.69590896_69590898del	NCBI36
NG_015849.1:g.14467_14469del
NG_015849.2:g.14467_14469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374355.8:c.394+5_394+7del (DLG3)	ENSP00000363475.3:n.394+5_394+7del
ENST00000374360.8:c.1405+5_1405+7del (DLG3) MANE Select	ENSP00000363480.3:n.1405+5_1405+7del
ENST00000194900.8:c.1459+5_1459+7del (DLG3)	ENSP00000194900.4:n.1459+5_1459+7del
ENST00000374355.7:c.394+5_394+7del (DLG3)	ENSP00000363475.3:n.394+5_394+7del
ENST00000374360.7:c.1405+5_1405+7del (DLG3)	ENSP00000363480.3:n.1405+5_1405+7del
ENST00000463252.5:n.1804+5_1804+7del (DLG3)
NM_020730.2:c.394+5_394+7del (DLG3)	NP_065781.1:n.394+5_394+7del
NM_021120.3:c.1405+5_1405+7del (DLG3)	NP_066943.2:n.1405+5_1405+7del
NR_046586.1:n.84-1015_84-1013del (DLG3-AS1)
NR_109801.1:n.51-1015_51-1013del (DLG3-AS1)
XM_005262248.2:c.-45+5_-45+7del (DLG3)	XP_005262305.1:n.-45+5_-45+7del
XM_006724625.2:c.1405+5_1405+7del (DLG3)	XP_006724688.1:n.1405+5_1405+7del
XM_006724626.2:c.1405+5_1405+7del (DLG3)	XP_006724689.1:n.1405+5_1405+7del
XM_011530883.1:c.1405+5_1405+7del (DLG3)	XP_011529185.1:n.1405+5_1405+7del
XM_005262248.4:c.-45+5_-45+7del (DLG3)	XP_005262305.1:n.-45+5_-45+7del
XM_017029322.2:c.394+5_394+7del (DLG3)	XP_016884811.1:n.394+5_394+7del
XM_017029323.2:c.394+5_394+7del (DLG3)	XP_016884812.1:n.394+5_394+7del
XM_017029324.2:c.394+5_394+7del (DLG3)	XP_016884813.1:n.394+5_394+7del
NM_021120.4:c.1405+5_1405+7del (DLG3) MANE Select	NP_066943.2:n.1405+5_1405+7del
NM_020730.3:c.394+5_394+7del (DLG3)	NP_065781.1:n.394+5_394+7del