Canonical Allele Identifier: CA2633642208

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398530-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398533_66398534del , CM000678.2:g.66398533_66398534del	GRCh38
NC_000016.9:g.66432436_66432437del , CM000678.1:g.66432436_66432437del	GRCh37
NC_000016.8:g.64989937_64989938del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1563_1564del MANE Select	ENSP00000344115.3:p.Asn522GlnfsTer7
ENST00000649567.1:c.1563_1564del	ENSP00000497290.1:p.Asn522GlnfsTer7
ENST00000341529.7:c.1563_1564del	ENSP00000344115.3:p.Asn522GlnfsTer7
ENST00000539168.1:c.-121_-120del	ENSP00000461880.1:n.-121_-120del
ENST00000565334.5:c.*686_*687del	ENSP00000456028.1:n.*686_*687del
ENST00000614547.4:c.1218_1219del	ENSP00000479381.1:p.Asn407GlnfsTer7
NM_001795.3:c.1563_1564del	NP_001786.2:p.Asn522GlnfsTer7
XM_011522801.1:c.1590_1591del	XP_011521103.1:p.Asn531GlnfsTer7
NM_001795.4:c.1563_1564del	NP_001786.2:p.Asn522GlnfsTer7
XM_011522801.2:c.1590_1591del	XP_011521103.1:p.Asn531GlnfsTer7
XM_024450133.1:c.1590_1591del	XP_024305901.1:p.Asn531GlnfsTer7
NM_001795.5:c.1563_1564del MANE Select	NP_001786.2:p.Asn522GlnfsTer7