Canonical Allele Identifier: CA282186481

Gene: CDH5

Linked Data

• dbSNP Id: rs3841559
• gnomAD v2: 16-66432303-GACCACCCC-G
• gnomAD v3: 16-66398400-GACCACCCC-G
• gnomAD v4: 16-66398400-GACCACCCC-G
• COSMIC: COSN17133283 ; COSN17138693 ; COSN17139596 ; COSN17143530 ; COSN17145329 ; COSN17148031 ; COSN17151756
• MyVariant Identifiers: chr16:g.66432304_66432311del (hg19) ; chr16:g.66398401_66398408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398415_66398422del , CM000678.2:g.66398415_66398422del	GRCh38
NC_000016.9:g.66432318_66432325del , CM000678.1:g.66432318_66432325del	GRCh37
NC_000016.8:g.64989819_64989826del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1486-41_1486-34del MANE Select	ENSP00000344115.3:n.1486-41_1486-34del
ENST00000649567.1:c.1486-41_1486-34del	ENSP00000497290.1:n.1486-41_1486-34del
ENST00000341529.7:c.1486-41_1486-34del	ENSP00000344115.3:n.1486-41_1486-34del
ENST00000539168.1:c.-198-41_-198-34del	ENSP00000461880.1:n.-198-41_-198-34del
ENST00000565334.5:c.*609-41_*609-34del	ENSP00000456028.1:n.*609-41_*609-34del
ENST00000614547.4:c.1141-41_1141-34del	ENSP00000479381.1:n.1141-41_1141-34del
NM_001795.3:c.1486-41_1486-34del	NP_001786.2:n.1486-41_1486-34del
XM_011522801.1:c.1513-41_1513-34del	XP_011521103.1:n.1513-41_1513-34del
NM_001795.4:c.1486-41_1486-34del	NP_001786.2:n.1486-41_1486-34del
XM_011522801.2:c.1513-41_1513-34del	XP_011521103.1:n.1513-41_1513-34del
XM_024450133.1:c.1513-41_1513-34del	XP_024305901.1:n.1513-41_1513-34del
NM_001795.5:c.1486-41_1486-34del MANE Select	NP_001786.2:n.1486-41_1486-34del