Canonical Allele Identifier: CA16620806
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 420199
ClinVar RCV Id: RCV000485617
dbSNP Id: rs1555725170
gnomAD v4: 19-15161701-A-AG
MyVariant Identifiers: chr19:g.15272513dupG (hg19) chr19:g.15272512_15272513insG (hg19) chr19:g.15161702dupG (hg38) chr19:g.15161701_15161702insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15161707dup , CM000681.2:g.15161707dup GRCh38
NC_000019.9:g.15272518dup , CM000681.1:g.15272518dup GRCh37
NC_000019.8:g.15133518dup NCBI36
NG_009819.1:g.44280dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.5926dup MANE Select ENSP00000263388.1:p.Leu1976ProfsTer11
ENST00000263388.6:c.5926dup ENSP00000263388.1:p.Leu1976ProfsTer11
ENST00000595514.1:c.487dup
NM_000435.2:c.5926dup NP_000426.2:p.Leu1976ProfsTer11
XM_005259924.3:c.5770dup XP_005259981.1:p.Leu1924ProfsTer11
XM_005259924.4:c.5770dup XP_005259981.1:p.Leu1924ProfsTer11
NM_000435.3:c.5926dup MANE Select NP_000426.2:p.Leu1976ProfsTer11
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