Canonical Allele Identifier: CA783619520
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1399888795
gnomAD v3: 19-15187483-AC-A
gnomAD v4: 19-15187483-AC-A
MyVariant Identifiers: chr19:g.15298295del (hg19) chr19:g.15187484del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187489del , CM000681.2:g.15187489del GRCh38
NC_000019.9:g.15298300del , CM000681.1:g.15298300del GRCh37
NC_000019.8:g.15159300del NCBI36
NG_009819.1:g.18498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-146del MANE Select ENSP00000263388.1:n.1607-146del
ENST00000263388.6:c.1607-146del ENSP00000263388.1:n.1607-146del
ENST00000601011.1:c.1604-146del ENSP00000473138.1:n.1604-146del
NM_000435.2:c.1607-146del NP_000426.2:n.1607-146del
XM_005259924.3:c.1607-146del XP_005259981.1:n.1607-146del
XM_005259924.4:c.1607-146del XP_005259981.1:n.1607-146del
NM_000435.3:c.1607-146del MANE Select NP_000426.2:n.1607-146del
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