Canonical Allele Identifier: CA783619522

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1471202323
• gnomAD v3: 19-15187485-CCCCCACT-C
• gnomAD v4: 19-15187485-CCCCCACT-C
• MyVariant Identifiers: chr19:g.15298297_15298303del (hg19) ; chr19:g.15187486_15187492del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187486_15187492del , CM000681.2:g.15187486_15187492del	GRCh38
NC_000019.9:g.15298297_15298303del , CM000681.1:g.15298297_15298303del	GRCh37
NC_000019.8:g.15159297_15159303del	NCBI36
NG_009819.1:g.18490_18496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-154_1607-148del MANE Select	ENSP00000263388.1:n.1607-154_1607-148del
ENST00000263388.6:c.1607-154_1607-148del	ENSP00000263388.1:n.1607-154_1607-148del
ENST00000601011.1:c.1604-154_1604-148del	ENSP00000473138.1:n.1604-154_1604-148del
NM_000435.2:c.1607-154_1607-148del	NP_000426.2:n.1607-154_1607-148del
XM_005259924.3:c.1607-154_1607-148del	XP_005259981.1:n.1607-154_1607-148del
XM_005259924.4:c.1607-154_1607-148del	XP_005259981.1:n.1607-154_1607-148del
NM_000435.3:c.1607-154_1607-148del MANE Select	NP_000426.2:n.1607-154_1607-148del