Canonical Allele Identifier: CA783619485

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1468755713
• gnomAD v3: 19-15187420-CTCTA-C
• gnomAD v4: 19-15187420-CTCTA-C
• MyVariant Identifiers: chr19:g.15298232_15298235del (hg19) ; chr19:g.15187421_15187424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187424_15187427del , CM000681.2:g.15187424_15187427del	GRCh38
NC_000019.9:g.15298235_15298238del , CM000681.1:g.15298235_15298238del	GRCh37
NC_000019.8:g.15159235_15159238del	NCBI36
NG_009819.1:g.18558_18561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-86_1607-83del MANE Select	ENSP00000263388.1:n.1607-86_1607-83del
ENST00000263388.6:c.1607-86_1607-83del	ENSP00000263388.1:n.1607-86_1607-83del
ENST00000601011.1:c.1604-86_1604-83del	ENSP00000473138.1:n.1604-86_1604-83del
NM_000435.2:c.1607-86_1607-83del	NP_000426.2:n.1607-86_1607-83del
XM_005259924.3:c.1607-86_1607-83del	XP_005259981.1:n.1607-86_1607-83del
XM_005259924.4:c.1607-86_1607-83del	XP_005259981.1:n.1607-86_1607-83del
NM_000435.3:c.1607-86_1607-83del MANE Select	NP_000426.2:n.1607-86_1607-83del