Canonical Allele Identifier: CA473254406

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2059744
• ClinVar RCV Id: RCV002933885
• dbSNP Id: rs1317373402
• gnomAD v3: 11-9204004-TAG-T
• gnomAD v4: 11-9204004-TAG-T
• MyVariant Identifiers: chr11:g.9225552_9225553del (hg19) ; chr11:g.9204005_9204006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204009_9204010del , CM000673.2:g.9204009_9204010del	GRCh38
NC_000011.9:g.9225556_9225557del , CM000673.1:g.9225556_9225557del	GRCh37
NC_000011.8:g.9182132_9182133del	NCBI36
NG_053019.1:g.66330_66331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328194.8:c.603_604del MANE Select	ENSP00000328524.3:p.Tyr202ArgfsTer3
ENST00000530780.2:c.*429_*430del	ENSP00000433925.1:n.*429_*430del
ENST00000530867.2:n.392_393del
ENST00000532696.2:n.526_527del
ENST00000679446.1:n.524_525del
ENST00000679460.1:n.392_393del
ENST00000679568.1:c.603_604del	ENSP00000505860.1:p.Tyr202ArgfsTer3
ENST00000679745.1:n.392_393del
ENST00000679999.1:c.603_604del	ENSP00000505198.1:p.Tyr202ArgfsTer3
ENST00000680252.1:c.392_393del
ENST00000680294.1:c.603_604del	ENSP00000506113.1:p.Tyr202ArgfsTer3
ENST00000680470.1:c.603_604del	ENSP00000505975.1:p.Tyr202ArgfsTer3
ENST00000680554.1:c.315_316del	ENSP00000505621.1:p.Tyr106ArgfsTer3
ENST00000680576.1:n.392_393del
ENST00000680599.1:n.520_521del
ENST00000680742.1:c.603_604del	ENSP00000505206.1:p.Tyr202ArgfsTer3
ENST00000680885.1:n.524_525del
ENST00000681158.1:c.392_393del
ENST00000681173.1:n.392_393del
ENST00000681203.1:c.531_532del	ENSP00000506456.1:p.Tyr178ArgfsTer3
ENST00000681425.1:n.524_525del
ENST00000681915.1:n.392_393del
ENST00000328194.7:c.603_604del	ENSP00000328524.3:p.Tyr202ArgfsTer3
ENST00000526707.5:c.531_532del	ENSP00000436780.1:p.Tyr178ArgfsTer3
ENST00000530044.5:c.603_604del	ENSP00000435866.1:p.Tyr202ArgfsTer3
ENST00000532696.1:n.358_359del
NM_001243254.1:c.603_604del	NP_001230183.1:p.Tyr202ArgfsTer3
NM_015213.3:c.603_604del	NP_056028.2:p.Tyr202ArgfsTer3
XM_005252832.1:c.603_604del	XP_005252889.1:p.Tyr202ArgfsTer3
XM_011519952.1:c.603_604del	XP_011518254.1:p.Tyr202ArgfsTer3
XR_242782.2:n.868_869del
XR_930851.1:n.868_869del
XR_930852.1:n.868_869del
XR_930853.1:n.868_869del
NM_001348749.1:c.531_532del	NP_001335678.1:p.Tyr178ArgfsTer3
NM_001348750.1:c.315_316del	NP_001335679.1:p.Tyr106ArgfsTer3
NR_145966.2:n.860_861del
NM_015213.4:c.603_604del MANE Select	NP_056028.2:p.Tyr202ArgfsTer3
NM_001243254.2:c.603_604del	NP_001230183.1:p.Tyr202ArgfsTer3
NM_001348749.2:c.531_532del	NP_001335678.1:p.Tyr178ArgfsTer3
NM_001348750.2:c.315_316del	NP_001335679.1:p.Tyr106ArgfsTer3