Canonical Allele Identifier: CA2678138086
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32220640-G-GCAAC
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220641_32220642insAACC , CM000668.2:g.32220641_32220642insAACC GRCh38
NC_000006.11:g.32188418_32188419insAACC , CM000668.1:g.32188418_32188419insAACC GRCh37
NC_000006.10:g.32296396_32296397insAACC NCBI36
NG_028190.1:g.8427_8428insGTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.923_924insGTTG MANE Select ENSP00000364163.3:p.Trp309LeufsTer10
ENST00000473562.1:n.1052_1053insGTTG
NM_004557.3:c.923_924insGTTG NP_004548.3:p.Trp309LeufsTer10
NR_134949.1:n.1062_1063insGTTG
NR_134950.1:n.1062_1063insGTTG
NM_004557.4:c.923_924insGTTG MANE Select NP_004548.3:p.Trp309LeufsTer10
NR_134949.2:n.1062_1063insGTTG
NR_134950.2:n.1062_1063insGTTG
Search 100 bp 5'
Search 100 bp 3'