Canonical Allele Identifier: CA2678138128
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32220835-GAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220839_32220840del , CM000668.2:g.32220839_32220840del GRCh38
NC_000006.11:g.32188616_32188617del , CM000668.1:g.32188616_32188617del GRCh37
NC_000006.10:g.32296594_32296595del NCBI36
NG_028190.1:g.8231_8232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.841_842del MANE Select ENSP00000364163.3:p.Val281GlnfsTer?
ENST00000473562.1:n.970_971del
NM_004557.3:c.841_842del NP_004548.3:p.Val281GlnfsTer?
NR_134949.1:n.980_981del
NR_134950.1:n.980_981del
NM_004557.4:c.841_842del MANE Select NP_004548.3:p.Val281GlnfsTer?
NR_134949.2:n.980_981del
NR_134950.2:n.980_981del
Search 100 bp 5'
Search 100 bp 3'