Canonical Allele Identifier: CA993904729

Gene: NOTCH3

Linked Data

• gnomAD v3: 19-15187471-G-GCCCCCCCCCCCCCCCCCCCCCCCCCCC
• gnomAD v4: 19-15187471-G-GCCCCCCCCCCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000681.2:g.15187475_15187476insCCCCCCCCCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000019.9:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000681.1:g.15298286_15298287insCCCCCCCCCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000019.8:g.15159286_15159287insCCCCCCCCCCCCCCCCCCCCCCCCCCC	NCBI36
NG_009819.1:g.18510_18511insGGGGGGGGGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000263388.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGG...
ENST00000263388.6:c.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000263388.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGG...
ENST00000601011.1:c.1604-134_1604-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG	ENSP00000473138.1:n.1604-134_1604-133insGGGGGGGGGGGGGGGGGGGGG...
NM_000435.2:c.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG	NP_000426.2:n.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG...
XM_005259924.3:c.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGG...
XM_005259924.4:c.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG	XP_005259981.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000435.3:c.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG MANE Select	NP_000426.2:n.1607-134_1607-133insGGGGGGGGGGGGGGGGGGGGGGGGGGG...