Canonical Allele Identifier: CA632128070
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1289221347
gnomAD v2: 19-15298053-CAT-C
gnomAD v4: 19-15187242-CAT-C
MyVariant Identifiers: chr19:g.15298054_15298055del (hg19) chr19:g.15187243_15187244del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187243_15187244del , CM000681.2:g.15187243_15187244del GRCh38
NC_000019.9:g.15298054_15298055del , CM000681.1:g.15298054_15298055del GRCh37
NC_000019.8:g.15159054_15159055del NCBI36
NG_009819.1:g.18738_18739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1701_1702del MANE Select ENSP00000263388.1:p.Ala569LeufsTer?
ENST00000263388.6:c.1701_1702del ENSP00000263388.1:p.Ala569LeufsTer?
ENST00000601011.1:c.1698_1699del ENSP00000473138.1:p.Ala568LeufsTer?
NM_000435.2:c.1701_1702del NP_000426.2:p.Ala569LeufsTer?
XM_005259924.3:c.1701_1702del XP_005259981.1:p.Ala569LeufsTer?
XM_005259924.4:c.1701_1702del XP_005259981.1:p.Ala569LeufsTer?
NM_000435.3:c.1701_1702del MANE Select NP_000426.2:p.Ala569LeufsTer?
Search 100 bp 5'
Search 100 bp 3'