Canonical Allele Identifier: CA993900412
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2046830032
gnomAD v3: 19-15180454-AGCT-A
gnomAD v4: 19-15180454-AGCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180455_15180457del , CM000681.2:g.15180455_15180457del GRCh38
NC_000019.9:g.15291266_15291268del , CM000681.1:g.15291266_15291268del GRCh37
NC_000019.8:g.15152266_15152268del NCBI36
NG_009819.1:g.25525_25527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-201_3143-199del MANE Select ENSP00000263388.1:n.3143-201_3143-199del
ENST00000263388.6:c.3143-201_3143-199del ENSP00000263388.1:n.3143-201_3143-199del
ENST00000601011.1:c.2984-201_2984-199del ENSP00000473138.1:n.2984-201_2984-199del
NM_000435.2:c.3143-201_3143-199del NP_000426.2:n.3143-201_3143-199del
XM_005259924.3:c.2987-201_2987-199del XP_005259981.1:n.2987-201_2987-199del
XM_005259924.4:c.2987-201_2987-199del XP_005259981.1:n.2987-201_2987-199del
NM_000435.3:c.3143-201_3143-199del MANE Select NP_000426.2:n.3143-201_3143-199del
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