Canonical Allele Identifier: CA282186511

Gene: CDH5

Linked Data

• dbSNP Id: rs397841698
• gnomAD v3: 16-66398420-A-ACCCCACCG
• gnomAD v4: 16-66398420-A-ACCCCACCG
• MyVariant Identifiers: chr16:g.66432323_66432324insCCCCACCG (hg19) ; chr16:g.66398420_66398421insCCCCACCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398422_66398423insCCACCGCC , CM000678.2:g.66398422_66398423insCCACCGCC	GRCh38
NC_000016.9:g.66432325_66432326insCCACCGCC , CM000678.1:g.66432325_66432326insCCACCGCC	GRCh37
NC_000016.8:g.64989826_64989827insCCACCGCC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1486-34_1486-33insCCACCGCC MANE Select	ENSP00000344115.3:n.1486-34_1486-33insCCA...
ENST00000649567.1:c.1486-34_1486-33insCCACCGCC	ENSP00000497290.1:n.1486-34_1486-33insCCA...
ENST00000341529.7:c.1486-34_1486-33insCCACCGCC	ENSP00000344115.3:n.1486-34_1486-33insCCA...
ENST00000539168.1:c.-198-34_-198-33insCCACCGCC	ENSP00000461880.1:n.-198-34_-198-33insCCA...
ENST00000565334.5:c.*609-34_*609-33insCCACCGCC	ENSP00000456028.1:n.*609-34_*609-33insCCA...
ENST00000614547.4:c.1141-34_1141-33insCCACCGCC	ENSP00000479381.1:n.1141-34_1141-33insCCA...
NM_001795.3:c.1486-34_1486-33insCCACCGCC	NP_001786.2:n.1486-34_1486-33insCCACCGCC
XM_011522801.1:c.1513-34_1513-33insCCACCGCC	XP_011521103.1:n.1513-34_1513-33insCCACCG...
NM_001795.4:c.1486-34_1486-33insCCACCGCC	NP_001786.2:n.1486-34_1486-33insCCACCGCC
XM_011522801.2:c.1513-34_1513-33insCCACCGCC	XP_011521103.1:n.1513-34_1513-33insCCACCG...
XM_024450133.1:c.1513-34_1513-33insCCACCGCC	XP_024305901.1:n.1513-34_1513-33insCCACCG...
NM_001795.5:c.1486-34_1486-33insCCACCGCC MANE Select	NP_001786.2:n.1486-34_1486-33insCCACCGCC