Canonical Allele Identifier: CA631945153

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2046893219
• gnomAD v2: 19-15298300-CACTTACTTCCACT-C
• gnomAD v3: 19-15187489-CACTTACTTCCACT-C
• gnomAD v4: 19-15187489-CACTTACTTCCACT-C
• MyVariant Identifiers: chr19:g.15298301_15298316delinsCCA (hg19) ; chr19:g.15187490_15187505delinsCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187490_15187502del , CM000681.2:g.15187490_15187502del	GRCh38
NC_000019.9:g.15298301_15298313del , CM000681.1:g.15298301_15298313del	GRCh37
NC_000019.8:g.15159301_15159313del	NCBI36
NG_009819.1:g.18480_18492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-164_1607-152del MANE Select	ENSP00000263388.1:n.1607-164_1607-152del
ENST00000263388.6:c.1607-164_1607-152del	ENSP00000263388.1:n.1607-164_1607-152del
ENST00000601011.1:c.1604-164_1604-152del	ENSP00000473138.1:n.1604-164_1604-152del
NM_000435.2:c.1607-164_1607-152del	NP_000426.2:n.1607-164_1607-152del
XM_005259924.3:c.1607-164_1607-152del	XP_005259981.1:n.1607-164_1607-152del
XM_005259924.4:c.1607-164_1607-152del	XP_005259981.1:n.1607-164_1607-152del
NM_000435.3:c.1607-164_1607-152del MANE Select	NP_000426.2:n.1607-164_1607-152del