Canonical Allele Identifier: CA632128180
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1316575773
gnomAD v2: 19-15295055-TA-T
gnomAD v4: 19-15184244-TA-T
MyVariant Identifiers: chr19:g.15295056del (hg19) chr19:g.15184245del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184246del , CM000681.2:g.15184246del GRCh38
NC_000019.9:g.15295057del , CM000681.1:g.15295057del GRCh37
NC_000019.8:g.15156057del NCBI36
NG_009819.1:g.21737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2566+50del MANE Select ENSP00000263388.1:n.2566+50del
ENST00000263388.6:c.2566+50del ENSP00000263388.1:n.2566+50del
ENST00000601011.1:c.2407+661del ENSP00000473138.1:n.2407+661del
NM_000435.2:c.2566+50del NP_000426.2:n.2566+50del
XM_005259924.3:c.2410+661del XP_005259981.1:n.2410+661del
XM_005259924.4:c.2410+661del XP_005259981.1:n.2410+661del
NM_000435.3:c.2566+50del MANE Select NP_000426.2:n.2566+50del
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