Canonical Allele Identifier: CA632128011
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1241037520
gnomAD v2: 19-15291450-CT-C
gnomAD v3: 19-15180639-CT-C
gnomAD v4: 19-15180639-CT-C
MyVariant Identifiers: chr19:g.15291451del (hg19) chr19:g.15180640del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180641del , CM000681.2:g.15180641del GRCh38
NC_000019.9:g.15291452del , CM000681.1:g.15291452del GRCh37
NC_000019.8:g.15152452del NCBI36
NG_009819.1:g.25342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3142+41del MANE Select ENSP00000263388.1:n.3142+41del
ENST00000263388.6:c.3142+41del ENSP00000263388.1:n.3142+41del
ENST00000601011.1:c.2983+41del ENSP00000473138.1:n.2983+41del
NM_000435.2:c.3142+41del NP_000426.2:n.3142+41del
XM_005259924.3:c.2986+41del XP_005259981.1:n.2986+41del
XM_005259924.4:c.2986+41del XP_005259981.1:n.2986+41del
NM_000435.3:c.3142+41del MANE Select NP_000426.2:n.3142+41del
Search 100 bp 5'
Search 100 bp 3'