Canonical Allele Identifier: CA993904630

Gene: NOTCH3

Linked Data

• gnomAD v3: 19-15187469-A-AGGGGGGGGGGGGGGGGGG
• gnomAD v4: 19-15187469-A-AGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187471_15187472insGGGGGGGGGGGGGGGGGG , CM000681.2:g.15187471_15187472insGGGGGGGGGGGGGGGGGG	GRCh38
NC_000019.9:g.15298282_15298283insGGGGGGGGGGGGGGGGGG , CM000681.1:g.15298282_15298283insGGGGGGGGGGGGGGGGGG	GRCh37
NC_000019.8:g.15159282_15159283insGGGGGGGGGGGGGGGGGG	NCBI36
NG_009819.1:g.18512_18513insCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCC MANE Select	ENSP00000263388.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCC
ENST00000263388.6:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCC	ENSP00000263388.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCC
ENST00000601011.1:c.1604-132_1604-131insCCCCCCCCCCCCCCCCCC	ENSP00000473138.1:n.1604-132_1604-131insCCCCCCCCCCCCCCCCCC
NM_000435.2:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCC	NP_000426.2:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCC
XM_005259924.3:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCC	XP_005259981.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCC
XM_005259924.4:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCC	XP_005259981.1:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCC
NM_000435.3:c.1607-132_1607-131insCCCCCCCCCCCCCCCCCC MANE Select	NP_000426.2:n.1607-132_1607-131insCCCCCCCCCCCCCCCCCC