Canonical Allele Identifier: CA282186636

Gene: CDH5

Linked Data

• dbSNP Id: rs879602752
• gnomAD v4: 16-66398519-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398520del , CM000678.2:g.66398520del	GRCh38
NC_000016.9:g.66432423del , CM000678.1:g.66432423del	GRCh37
NC_000016.8:g.64989924del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1550del MANE Select	ENSP00000344115.3:p.Ile517ThrfsTer2
ENST00000649567.1:c.1550del	ENSP00000497290.1:p.Ile517ThrfsTer2
ENST00000341529.7:c.1550del	ENSP00000344115.3:p.Ile517ThrfsTer2
ENST00000539168.1:c.-134del	ENSP00000461880.1:n.-134del
ENST00000565334.5:c.*673del	ENSP00000456028.1:n.*673del
ENST00000614547.4:c.1205del	ENSP00000479381.1:p.Ile402ThrfsTer2
NM_001795.3:c.1550del	NP_001786.2:p.Ile517ThrfsTer2
XM_011522801.1:c.1577del	XP_011521103.1:p.Ile526ThrfsTer2
NM_001795.4:c.1550del	NP_001786.2:p.Ile517ThrfsTer2
XM_011522801.2:c.1577del	XP_011521103.1:p.Ile526ThrfsTer2
XM_024450133.1:c.1577del	XP_024305901.1:p.Ile526ThrfsTer2
NM_001795.5:c.1550del MANE Select	NP_001786.2:p.Ile517ThrfsTer2