Canonical Allele Identifier: CA2633642187

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398521-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398523dup , CM000678.2:g.66398523dup	GRCh38
NC_000016.9:g.66432426dup , CM000678.1:g.66432426dup	GRCh37
NC_000016.8:g.64989927dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1553dup MANE Select	ENSP00000344115.3:p.Leu518PhefsTer4
ENST00000649567.1:c.1553dup	ENSP00000497290.1:p.Leu518PhefsTer4
ENST00000341529.7:c.1553dup	ENSP00000344115.3:p.Leu518PhefsTer4
ENST00000539168.1:c.-131dup	ENSP00000461880.1:n.-131dup
ENST00000565334.5:c.*676dup	ENSP00000456028.1:n.*676dup
ENST00000614547.4:c.1208dup	ENSP00000479381.1:p.Leu403PhefsTer4
NM_001795.3:c.1553dup	NP_001786.2:p.Leu518PhefsTer4
XM_011522801.1:c.1580dup	XP_011521103.1:p.Leu527PhefsTer4
NM_001795.4:c.1553dup	NP_001786.2:p.Leu518PhefsTer4
XM_011522801.2:c.1580dup	XP_011521103.1:p.Leu527PhefsTer4
XM_024450133.1:c.1580dup	XP_024305901.1:p.Leu527PhefsTer4
NM_001795.5:c.1553dup MANE Select	NP_001786.2:p.Leu518PhefsTer4