Canonical Allele Identifier: CA2228852429
Gene: CDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66398520_66398521delinsTC , CM000678.2:g.66398520_66398521delinsTC GRCh38
NC_000016.9:g.66432423_66432424delinsTC , CM000678.1:g.66432423_66432424delinsTC GRCh37
NC_000016.8:g.64989924_64989925delinsTC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000341529.8:c.1550_1551delinsTC MANE Select ENSP00000344115.3:p.Ile517=
ENST00000649567.1:c.1550_1551delinsTC ENSP00000497290.1:p.Ile517=
ENST00000341529.7:c.1550_1551delinsTC ENSP00000344115.3:p.Ile517=
ENST00000539168.1:c.-134_-133delinsTC ENSP00000461880.1:n.-134_-133delinsTC
ENST00000565334.5:c.*673_*674delinsTC ENSP00000456028.1:n.*673_*674delinsTC
ENST00000614547.4:c.1205_1206delinsTC ENSP00000479381.1:p.Ile402=
NM_001795.3:c.1550_1551delinsTC NP_001786.2:p.Ile517=
XM_011522801.1:c.1577_1578delinsTC XP_011521103.1:p.Ile526=
NM_001795.4:c.1550_1551delinsTC NP_001786.2:p.Ile517=
XM_011522801.2:c.1577_1578delinsTC XP_011521103.1:p.Ile526=
XM_024450133.1:c.1577_1578delinsTC XP_024305901.1:p.Ile526=
NM_001795.5:c.1550_1551delinsTC MANE Select NP_001786.2:p.Ile517=