Canonical Allele Identifier: CA2839493413

Gene: DENND5A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204266del , CM000673.2:g.9204266del	GRCh38
NC_000011.9:g.9225813del , CM000673.1:g.9225813del	GRCh37
NC_000011.8:g.9182389del	NCBI36
NG_053019.1:g.66073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.346del MANE Select	ENSP00000328524.3:p.Gln116AsnfsTer26
ENST00000530780.2:c.*172del	ENSP00000433925.1:n.*172del
ENST00000530867.2:n.135del
ENST00000532696.2:n.269del
ENST00000679446.1:n.267del
ENST00000679460.1:n.135del
ENST00000679568.1:c.346del	ENSP00000505860.1:p.Gln116AsnfsTer26
ENST00000679745.1:n.135del
ENST00000679999.1:c.346del	ENSP00000505198.1:p.Gln116AsnfsTer26
ENST00000680252.1:c.135del
ENST00000680294.1:c.346del	ENSP00000506113.1:p.Gln116AsnfsTer26
ENST00000680470.1:c.346del	ENSP00000505975.1:p.Gln116AsnfsTer26
ENST00000680554.1:c.58del	ENSP00000505621.1:p.Gln20AsnfsTer26
ENST00000680576.1:n.135del
ENST00000680599.1:n.263del
ENST00000680742.1:c.346del	ENSP00000505206.1:p.Gln116AsnfsTer26
ENST00000680885.1:n.267del
ENST00000681158.1:c.135del
ENST00000681173.1:n.135del
ENST00000681203.1:c.274del	ENSP00000506456.1:p.Gln92AsnfsTer26
ENST00000681425.1:n.267del
ENST00000681915.1:n.135del
ENST00000328194.7:c.346del	ENSP00000328524.3:p.Gln116AsnfsTer26
ENST00000526707.5:c.274del	ENSP00000436780.1:p.Gln92AsnfsTer26
ENST00000530044.5:c.346del	ENSP00000435866.1:p.Gln116AsnfsTer26
ENST00000530780.1:c.*172del	ENSP00000433925.1:n.*172del
ENST00000532696.1:n.101del
NM_001243254.1:c.346del	NP_001230183.1:p.Gln116AsnfsTer26
NM_015213.3:c.346del	NP_056028.2:p.Gln116AsnfsTer26
XM_005252832.1:c.346del	XP_005252889.1:p.Gln116AsnfsTer26
XM_011519952.1:c.346del	XP_011518254.1:p.Gln116AsnfsTer26
XR_242782.2:n.611del
XR_930851.1:n.611del
XR_930852.1:n.611del
XR_930853.1:n.611del
NM_001348749.1:c.274del	NP_001335678.1:p.Gln92AsnfsTer26
NM_001348750.1:c.58del	NP_001335679.1:p.Gln20AsnfsTer26
NR_145966.2:n.603del
NM_015213.4:c.346del MANE Select	NP_056028.2:p.Gln116AsnfsTer26
NM_001243254.2:c.346del	NP_001230183.1:p.Gln116AsnfsTer26
NM_001348749.2:c.274del	NP_001335678.1:p.Gln92AsnfsTer26
NM_001348750.2:c.58del	NP_001335679.1:p.Gln20AsnfsTer26