Canonical Allele Identifier: CA934967444

Gene: DENND5A

Linked Data

• dbSNP Id: rs1847942694
• gnomAD v3: 11-9160482-GA-G
• gnomAD v4: 11-9160482-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9160484del , CM000673.2:g.9160484del	GRCh38
NC_000011.9:g.9182031del , CM000673.1:g.9182031del	GRCh37
NC_000011.8:g.9138607del	NCBI36
NG_053019.1:g.109853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.2436+230del MANE Select	ENSP00000328524.3:n.2436+230del
ENST00000530780.2:c.*2262+230del	ENSP00000433925.1:n.*2262+230del
ENST00000679446.1:n.2357+230del
ENST00000679458.1:n.3837+230del
ENST00000679460.1:n.2225+230del
ENST00000679568.1:c.2436+230del	ENSP00000505860.1:n.2436+230del
ENST00000679745.1:n.2225+230del
ENST00000679926.1:n.1252+230del
ENST00000679999.1:c.2436+230del	ENSP00000505198.1:n.2436+230del
ENST00000680252.1:c.2225+230del
ENST00000680294.1:c.2436+230del	ENSP00000506113.1:n.2436+230del
ENST00000680358.1:n.1735+230del
ENST00000680470.1:c.*302+230del	ENSP00000505975.1:n.*302+230del
ENST00000680554.1:c.2148+230del	ENSP00000505621.1:n.2148+230del
ENST00000680576.1:n.2225+230del
ENST00000680599.1:n.2353+230del
ENST00000680742.1:c.2436+230del	ENSP00000505206.1:n.2436+230del
ENST00000680885.1:n.2357+230del
ENST00000681158.1:c.2225+230del
ENST00000681173.1:n.2226-184del
ENST00000681203.1:c.2364+230del	ENSP00000506456.1:n.2364+230del
ENST00000681425.1:n.2357+230del
ENST00000328194.7:c.2436+230del	ENSP00000328524.3:n.2436+230del
ENST00000526707.5:c.2364+230del	ENSP00000436780.1:n.2364+230del
ENST00000527700.5:n.1998+230del
ENST00000530044.5:c.2436+230del	ENSP00000435866.1:n.2436+230del
NM_001243254.1:c.2436+230del	NP_001230183.1:n.2436+230del
NM_015213.3:c.2436+230del	NP_056028.2:n.2436+230del
XM_005252832.1:c.2436+230del	XP_005252889.1:n.2436+230del
XM_011519952.1:c.2436+230del	XP_011518254.1:n.2436+230del
XM_011519953.1:c.534+230del	XP_011518255.1:n.534+230del
XR_242782.2:n.2701+230del
XR_930851.1:n.2701+230del
XR_930852.1:n.2701+230del
XR_930853.1:n.2550+230del
NM_001348749.1:c.2364+230del	NP_001335678.1:n.2364+230del
NM_001348750.1:c.2148+230del	NP_001335679.1:n.2148+230del
NR_145966.2:n.2693+230del
NM_015213.4:c.2436+230del MANE Select	NP_056028.2:n.2436+230del
NM_001243254.2:c.2436+230del	NP_001230183.1:n.2436+230del
NM_001348749.2:c.2364+230del	NP_001335678.1:n.2364+230del
NM_001348750.2:c.2148+230del	NP_001335679.1:n.2148+230del