Canonical Allele Identifier: CA934972348

Gene: DENND5A

Linked Data

• gnomAD v3: 11-9203915-A-AT
• gnomAD v4: 11-9203915-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203915_9203916insT , CM000673.2:g.9203915_9203916insT	GRCh38
NC_000011.9:g.9225462_9225463insT , CM000673.1:g.9225462_9225463insT	GRCh37
NC_000011.8:g.9182038_9182039insT	NCBI36
NG_053019.1:g.66420_66421insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.693_694insA MANE Select	ENSP00000328524.3:p.Ser232IlefsTer10
ENST00000530780.2:c.*519_*520insA	ENSP00000433925.1:n.*519_*520insA
ENST00000530867.2:n.482_483insA
ENST00000532696.2:n.616_617insA
ENST00000679446.1:n.614_615insA
ENST00000679460.1:n.482_483insA
ENST00000679568.1:c.693_694insA	ENSP00000505860.1:p.Ser232IlefsTer10
ENST00000679745.1:n.482_483insA
ENST00000679999.1:c.693_694insA	ENSP00000505198.1:p.Ser232IlefsTer10
ENST00000680252.1:c.482_483insA
ENST00000680294.1:c.693_694insA	ENSP00000506113.1:p.Ser232IlefsTer10
ENST00000680470.1:c.693_694insA	ENSP00000505975.1:p.Ser232IlefsTer10
ENST00000680554.1:c.405_406insA	ENSP00000505621.1:p.Ser136IlefsTer10
ENST00000680576.1:n.482_483insA
ENST00000680599.1:n.610_611insA
ENST00000680742.1:c.693_694insA	ENSP00000505206.1:p.Ser232IlefsTer10
ENST00000680885.1:n.614_615insA
ENST00000681158.1:c.482_483insA
ENST00000681173.1:n.482_483insA
ENST00000681203.1:c.621_622insA	ENSP00000506456.1:p.Ser208IlefsTer10
ENST00000681425.1:n.614_615insA
ENST00000681915.1:n.482_483insA
ENST00000328194.7:c.693_694insA	ENSP00000328524.3:p.Ser232IlefsTer10
ENST00000526707.5:c.621_622insA	ENSP00000436780.1:p.Ser208IlefsTer10
ENST00000530044.5:c.693_694insA	ENSP00000435866.1:p.Ser232IlefsTer10
ENST00000532696.1:n.448_449insA
NM_001243254.1:c.693_694insA	NP_001230183.1:p.Ser232IlefsTer10
NM_015213.3:c.693_694insA	NP_056028.2:p.Ser232IlefsTer10
XM_005252832.1:c.693_694insA	XP_005252889.1:p.Ser232IlefsTer10
XM_011519952.1:c.693_694insA	XP_011518254.1:p.Ser232IlefsTer10
XR_242782.2:n.958_959insA
XR_930851.1:n.958_959insA
XR_930852.1:n.958_959insA
XR_930853.1:n.958_959insA
NM_001348749.1:c.621_622insA	NP_001335678.1:p.Ser208IlefsTer10
NM_001348750.1:c.405_406insA	NP_001335679.1:p.Ser136IlefsTer10
NR_145966.2:n.950_951insA
NM_015213.4:c.693_694insA MANE Select	NP_056028.2:p.Ser232IlefsTer10
NM_001243254.2:c.693_694insA	NP_001230183.1:p.Ser232IlefsTer10
NM_001348749.2:c.621_622insA	NP_001335678.1:p.Ser208IlefsTer10
NM_001348750.2:c.405_406insA	NP_001335679.1:p.Ser136IlefsTer10