Canonical Allele Identifier: CA282186628

Gene: CDH5

Linked Data

• dbSNP Id: rs386791725

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398520_66398521delinsCT , CM000678.2:g.66398520_66398521delinsCT	GRCh38
NC_000016.9:g.66432423_66432424delinsCT , CM000678.1:g.66432423_66432424delinsCT	GRCh37
NC_000016.8:g.64989924_64989925delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1550_1551delinsCT MANE Select	ENSP00000344115.3:p.Ile517Thr
ENST00000649567.1:c.1550_1551delinsCT	ENSP00000497290.1:p.Ile517Thr
ENST00000341529.7:c.1550_1551delinsCT	ENSP00000344115.3:p.Ile517Thr
ENST00000539168.1:c.-134_-133delinsCT	ENSP00000461880.1:n.-134_-133delinsCT
ENST00000565334.5:c.*673_*674delinsCT	ENSP00000456028.1:n.*673_*674delinsCT
ENST00000614547.4:c.1205_1206delinsCT	ENSP00000479381.1:p.Ile402Thr
NM_001795.3:c.1550_1551delinsCT	NP_001786.2:p.Ile517Thr
XM_011522801.1:c.1577_1578delinsCT	XP_011521103.1:p.Ile526Thr
NM_001795.4:c.1550_1551delinsCT	NP_001786.2:p.Ile517Thr
XM_011522801.2:c.1577_1578delinsCT	XP_011521103.1:p.Ile526Thr
XM_024450133.1:c.1577_1578delinsCT	XP_024305901.1:p.Ile526Thr
NM_001795.5:c.1550_1551delinsCT MANE Select	NP_001786.2:p.Ile517Thr