Canonical Allele Identifier: CA2228852425

Gene: CDH5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398519_66398520delinsAT , CM000678.2:g.66398519_66398520delinsAT	GRCh38
NC_000016.9:g.66432422_66432423delinsAT , CM000678.1:g.66432422_66432423delinsAT	GRCh37
NC_000016.8:g.64989923_64989924delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1549_1550delinsAT MANE Select	ENSP00000344115.3:p.Ile517=
ENST00000649567.1:c.1549_1550delinsAT	ENSP00000497290.1:p.Ile517=
ENST00000341529.7:c.1549_1550delinsAT	ENSP00000344115.3:p.Ile517=
ENST00000539168.1:c.-135_-134delinsAT	ENSP00000461880.1:n.-135_-134delinsAT
ENST00000565334.5:c.*672_*673delinsAT	ENSP00000456028.1:n.*672_*673delinsAT
ENST00000614547.4:c.1204_1205delinsAT	ENSP00000479381.1:p.Ile402=
NM_001795.3:c.1549_1550delinsAT	NP_001786.2:p.Ile517=
XM_011522801.1:c.1576_1577delinsAT	XP_011521103.1:p.Ile526=
NM_001795.4:c.1549_1550delinsAT	NP_001786.2:p.Ile517=
XM_011522801.2:c.1576_1577delinsAT	XP_011521103.1:p.Ile526=
XM_024450133.1:c.1576_1577delinsAT	XP_024305901.1:p.Ile526=
NM_001795.5:c.1549_1550delinsAT MANE Select	NP_001786.2:p.Ile517=