Canonical Allele Identifier: CA631945147
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1302481169
gnomAD v2: 19-15298287-A-AC
gnomAD v3: 19-15187476-A-AC
gnomAD v4: 19-15187476-A-AC
MyVariant Identifiers: chr19:g.15298288_15298289insC (hg19) chr19:g.15298287_15298288insC (hg19) chr19:g.15187477_15187478insC (hg38) chr19:g.15187476_15187477insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187482dup , CM000681.2:g.15187482dup GRCh38
NC_000019.9:g.15298293dup , CM000681.1:g.15298293dup GRCh37
NC_000019.8:g.15159293dup NCBI36
NG_009819.1:g.18505dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-139dup MANE Select ENSP00000263388.1:n.1607-139dup
ENST00000263388.6:c.1607-139dup ENSP00000263388.1:n.1607-139dup
ENST00000601011.1:c.1604-139dup ENSP00000473138.1:n.1604-139dup
NM_000435.2:c.1607-139dup NP_000426.2:n.1607-139dup
XM_005259924.3:c.1607-139dup XP_005259981.1:n.1607-139dup
XM_005259924.4:c.1607-139dup XP_005259981.1:n.1607-139dup
NM_000435.3:c.1607-139dup MANE Select NP_000426.2:n.1607-139dup
Search 100 bp 5'
Search 100 bp 3'