Canonical Allele Identifier: CA2583062992
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15180531-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180534_15180535del , CM000681.2:g.15180534_15180535del GRCh38
NC_000019.9:g.15291345_15291346del , CM000681.1:g.15291345_15291346del GRCh37
NC_000019.8:g.15152345_15152346del NCBI36
NG_009819.1:g.25449_25450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3142+148_3142+149del MANE Select ENSP00000263388.1:n.3142+148_3142+149del
ENST00000263388.6:c.3142+148_3142+149del ENSP00000263388.1:n.3142+148_3142+149del
ENST00000601011.1:c.2983+148_2983+149del ENSP00000473138.1:n.2983+148_2983+149del
NM_000435.2:c.3142+148_3142+149del NP_000426.2:n.3142+148_3142+149del
XM_005259924.3:c.2986+148_2986+149del XP_005259981.1:n.2986+148_2986+149del
XM_005259924.4:c.2986+148_2986+149del XP_005259981.1:n.2986+148_2986+149del
NM_000435.3:c.3142+148_3142+149del MANE Select NP_000426.2:n.3142+148_3142+149del
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