Canonical Allele Identifier: CA934972362

Gene: DENND5A

Linked Data

• gnomAD v3: 11-9203938-TCC-T
• gnomAD v4: 11-9203938-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203939_9203940del , CM000673.2:g.9203939_9203940del	GRCh38
NC_000011.9:g.9225486_9225487del , CM000673.1:g.9225486_9225487del	GRCh37
NC_000011.8:g.9182062_9182063del	NCBI36
NG_053019.1:g.66396_66397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.669_670del MANE Select	ENSP00000328524.3:p.Glu224AlafsTer17
ENST00000530780.2:c.*495_*496del	ENSP00000433925.1:n.*495_*496del
ENST00000530867.2:n.458_459del
ENST00000532696.2:n.592_593del
ENST00000679446.1:n.590_591del
ENST00000679460.1:n.458_459del
ENST00000679568.1:c.669_670del	ENSP00000505860.1:p.Glu224AlafsTer17
ENST00000679745.1:n.458_459del
ENST00000679999.1:c.669_670del	ENSP00000505198.1:p.Glu224AlafsTer17
ENST00000680252.1:c.458_459del
ENST00000680294.1:c.669_670del	ENSP00000506113.1:p.Glu224AlafsTer17
ENST00000680470.1:c.669_670del	ENSP00000505975.1:p.Glu224AlafsTer17
ENST00000680554.1:c.381_382del	ENSP00000505621.1:p.Glu128AlafsTer17
ENST00000680576.1:n.458_459del
ENST00000680599.1:n.586_587del
ENST00000680742.1:c.669_670del	ENSP00000505206.1:p.Glu224AlafsTer17
ENST00000680885.1:n.590_591del
ENST00000681158.1:c.458_459del
ENST00000681173.1:n.458_459del
ENST00000681203.1:c.597_598del	ENSP00000506456.1:p.Glu200AlafsTer17
ENST00000681425.1:n.590_591del
ENST00000681915.1:n.458_459del
ENST00000328194.7:c.669_670del	ENSP00000328524.3:p.Glu224AlafsTer17
ENST00000526707.5:c.597_598del	ENSP00000436780.1:p.Glu200AlafsTer17
ENST00000530044.5:c.669_670del	ENSP00000435866.1:p.Glu224AlafsTer17
ENST00000532696.1:n.424_425del
NM_001243254.1:c.669_670del	NP_001230183.1:p.Glu224AlafsTer17
NM_015213.3:c.669_670del	NP_056028.2:p.Glu224AlafsTer17
XM_005252832.1:c.669_670del	XP_005252889.1:p.Glu224AlafsTer17
XM_011519952.1:c.669_670del	XP_011518254.1:p.Glu224AlafsTer17
XR_242782.2:n.934_935del
XR_930851.1:n.934_935del
XR_930852.1:n.934_935del
XR_930853.1:n.934_935del
NM_001348749.1:c.597_598del	NP_001335678.1:p.Glu200AlafsTer17
NM_001348750.1:c.381_382del	NP_001335679.1:p.Glu128AlafsTer17
NR_145966.2:n.926_927del
NM_015213.4:c.669_670del MANE Select	NP_056028.2:p.Glu224AlafsTer17
NM_001243254.2:c.669_670del	NP_001230183.1:p.Glu224AlafsTer17
NM_001348749.2:c.597_598del	NP_001335678.1:p.Glu200AlafsTer17
NM_001348750.2:c.381_382del	NP_001335679.1:p.Glu128AlafsTer17