Canonical Allele Identifier: CA993904771

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1304000603
• gnomAD v3: 19-15187471-G-GCCCCACC
• gnomAD v4: 19-15187471-G-GCCCCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187485_15187491dup , CM000681.2:g.15187485_15187491dup	GRCh38
NC_000019.9:g.15298296_15298302dup , CM000681.1:g.15298296_15298302dup	GRCh37
NC_000019.8:g.15159296_15159302dup	NCBI36
NG_009819.1:g.18504_18510dup

Transcript Alleles

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