Canonical Allele Identifier: CA2583063002
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15180539-TCACACACCCACACCACTCAGC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180549_15180569del , CM000681.2:g.15180549_15180569del GRCh38
NC_000019.9:g.15291360_15291380del , CM000681.1:g.15291360_15291380del GRCh37
NC_000019.8:g.15152360_15152380del NCBI36
NG_009819.1:g.25422_25442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3142+121_3142+141del MANE Select ENSP00000263388.1:n.3142+121_3142+141del
ENST00000263388.6:c.3142+121_3142+141del ENSP00000263388.1:n.3142+121_3142+141del
ENST00000601011.1:c.2983+121_2983+141del ENSP00000473138.1:n.2983+121_2983+141del
NM_000435.2:c.3142+121_3142+141del NP_000426.2:n.3142+121_3142+141del
XM_005259924.3:c.2986+121_2986+141del XP_005259981.1:n.2986+121_2986+141del
XM_005259924.4:c.2986+121_2986+141del XP_005259981.1:n.2986+121_2986+141del
NM_000435.3:c.3142+121_3142+141del MANE Select NP_000426.2:n.3142+121_3142+141del
Search 100 bp 5'
Search 100 bp 3'