Canonical Allele Identifier: CA934972360

Gene: DENND5A

Linked Data

• gnomAD v3: 11-9203935-TG-T
• gnomAD v4: 11-9203935-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203936del , CM000673.2:g.9203936del	GRCh38
NC_000011.9:g.9225483del , CM000673.1:g.9225483del	GRCh37
NC_000011.8:g.9182059del	NCBI36
NG_053019.1:g.66400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.673del MANE Select	ENSP00000328524.3:p.Gln225AsnfsTer?
ENST00000530780.2:c.*499del	ENSP00000433925.1:n.*499del
ENST00000530867.2:n.462del
ENST00000532696.2:n.596del
ENST00000679446.1:n.594del
ENST00000679460.1:n.462del
ENST00000679568.1:c.673del	ENSP00000505860.1:p.Gln225AsnfsTer?
ENST00000679745.1:n.462del
ENST00000679999.1:c.673del	ENSP00000505198.1:p.Gln225AsnfsTer?
ENST00000680252.1:c.462del
ENST00000680294.1:c.673del	ENSP00000506113.1:p.Gln225AsnfsTer?
ENST00000680470.1:c.673del	ENSP00000505975.1:p.Gln225AsnfsTer?
ENST00000680554.1:c.385del	ENSP00000505621.1:p.Gln129AsnfsTer?
ENST00000680576.1:n.462del
ENST00000680599.1:n.590del
ENST00000680742.1:c.673del	ENSP00000505206.1:p.Gln225AsnfsTer?
ENST00000680885.1:n.594del
ENST00000681158.1:c.462del
ENST00000681173.1:n.462del
ENST00000681203.1:c.601del	ENSP00000506456.1:p.Gln201AsnfsTer?
ENST00000681425.1:n.594del
ENST00000681915.1:n.462del
ENST00000328194.7:c.673del	ENSP00000328524.3:p.Gln225AsnfsTer?
ENST00000526707.5:c.601del	ENSP00000436780.1:p.Gln201AsnfsTer?
ENST00000530044.5:c.673del	ENSP00000435866.1:p.Gln225AsnfsTer?
ENST00000532696.1:n.428del
NM_001243254.1:c.673del	NP_001230183.1:p.Gln225AsnfsTer?
NM_015213.3:c.673del	NP_056028.2:p.Gln225AsnfsTer?
XM_005252832.1:c.673del	XP_005252889.1:p.Gln225AsnfsTer?
XM_011519952.1:c.673del	XP_011518254.1:p.Gln225AsnfsTer?
XR_242782.2:n.938del
XR_930851.1:n.938del
XR_930852.1:n.938del
XR_930853.1:n.938del
NM_001348749.1:c.601del	NP_001335678.1:p.Gln201AsnfsTer?
NM_001348750.1:c.385del	NP_001335679.1:p.Gln129AsnfsTer?
NR_145966.2:n.930del
NM_015213.4:c.673del MANE Select	NP_056028.2:p.Gln225AsnfsTer?
NM_001243254.2:c.673del	NP_001230183.1:p.Gln225AsnfsTer?
NM_001348749.2:c.601del	NP_001335678.1:p.Gln201AsnfsTer?
NM_001348750.2:c.385del	NP_001335679.1:p.Gln129AsnfsTer?