Canonical Allele Identifier: CA934972342

Gene: DENND5A

Linked Data

• gnomAD v3: 11-9203910-AGG-A
• gnomAD v4: 11-9203910-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203911_9203912del , CM000673.2:g.9203911_9203912del	GRCh38
NC_000011.9:g.9225458_9225459del , CM000673.1:g.9225458_9225459del	GRCh37
NC_000011.8:g.9182034_9182035del	NCBI36
NG_053019.1:g.66424_66425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.697_698del MANE Select	ENSP00000328524.3:p.Pro233SerfsTer8
ENST00000530780.2:c.*523_*524del	ENSP00000433925.1:n.*523_*524del
ENST00000530867.2:n.486_487del
ENST00000532696.2:n.620_621del
ENST00000679446.1:n.618_619del
ENST00000679460.1:n.486_487del
ENST00000679568.1:c.697_698del	ENSP00000505860.1:p.Pro233SerfsTer8
ENST00000679745.1:n.486_487del
ENST00000679999.1:c.697_698del	ENSP00000505198.1:p.Pro233SerfsTer8
ENST00000680252.1:c.486_487del
ENST00000680294.1:c.697_698del	ENSP00000506113.1:p.Pro233SerfsTer8
ENST00000680470.1:c.697_698del	ENSP00000505975.1:p.Pro233SerfsTer8
ENST00000680554.1:c.409_410del	ENSP00000505621.1:p.Pro137SerfsTer8
ENST00000680576.1:n.486_487del
ENST00000680599.1:n.614_615del
ENST00000680742.1:c.697_698del	ENSP00000505206.1:p.Pro233SerfsTer8
ENST00000680885.1:n.618_619del
ENST00000681158.1:c.486_487del
ENST00000681173.1:n.486_487del
ENST00000681203.1:c.625_626del	ENSP00000506456.1:p.Pro209SerfsTer8
ENST00000681425.1:n.618_619del
ENST00000681915.1:n.486_487del
ENST00000328194.7:c.697_698del	ENSP00000328524.3:p.Pro233SerfsTer8
ENST00000526707.5:c.625_626del	ENSP00000436780.1:p.Pro209SerfsTer8
ENST00000530044.5:c.697_698del	ENSP00000435866.1:p.Pro233SerfsTer8
ENST00000532696.1:n.452_453del
NM_001243254.1:c.697_698del	NP_001230183.1:p.Pro233SerfsTer8
NM_015213.3:c.697_698del	NP_056028.2:p.Pro233SerfsTer8
XM_005252832.1:c.697_698del	XP_005252889.1:p.Pro233SerfsTer8
XM_011519952.1:c.697_698del	XP_011518254.1:p.Pro233SerfsTer8
XR_242782.2:n.962_963del
XR_930851.1:n.962_963del
XR_930852.1:n.962_963del
XR_930853.1:n.962_963del
NM_001348749.1:c.625_626del	NP_001335678.1:p.Pro209SerfsTer8
NM_001348750.1:c.409_410del	NP_001335679.1:p.Pro137SerfsTer8
NR_145966.2:n.954_955del
NM_015213.4:c.697_698del MANE Select	NP_056028.2:p.Pro233SerfsTer8
NM_001243254.2:c.697_698del	NP_001230183.1:p.Pro233SerfsTer8
NM_001348749.2:c.625_626del	NP_001335678.1:p.Pro209SerfsTer8
NM_001348750.2:c.409_410del	NP_001335679.1:p.Pro137SerfsTer8