Canonical Allele Identifier: CA631945144

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1304000603
• gnomAD v2: 19-15298282-GCCCCACC-G
• gnomAD v3: 19-15187471-GCCCCACC-G
• gnomAD v4: 19-15187471-GCCCCACC-G
• MyVariant Identifiers: chr19:g.15298283_15298289del (hg19) ; chr19:g.15187472_15187478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187485_15187491del , CM000681.2:g.15187485_15187491del	GRCh38
NC_000019.9:g.15298296_15298302del , CM000681.1:g.15298296_15298302del	GRCh37
NC_000019.8:g.15159296_15159302del	NCBI36
NG_009819.1:g.18504_18510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-140_1607-134del MANE Select	ENSP00000263388.1:n.1607-140_1607-134del
ENST00000263388.6:c.1607-140_1607-134del	ENSP00000263388.1:n.1607-140_1607-134del
ENST00000601011.1:c.1604-140_1604-134del	ENSP00000473138.1:n.1604-140_1604-134del
NM_000435.2:c.1607-140_1607-134del	NP_000426.2:n.1607-140_1607-134del
XM_005259924.3:c.1607-140_1607-134del	XP_005259981.1:n.1607-140_1607-134del
XM_005259924.4:c.1607-140_1607-134del	XP_005259981.1:n.1607-140_1607-134del
NM_000435.3:c.1607-140_1607-134del MANE Select	NP_000426.2:n.1607-140_1607-134del