Canonical Allele Identifier: CA2324747571

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187017_15187020delinsGCCA , CM000681.2:g.15187017_15187020delinsGCCA	GRCh38
NC_000019.9:g.15297828_15297831delinsGCCA , CM000681.1:g.15297828_15297831delinsGCCA	GRCh37
NC_000019.8:g.15158828_15158831delinsGCCA	NCBI36
NG_009819.1:g.18962_18965delinsTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1841-32_1841-29delinsTGGC MANE Select	ENSP00000263388.1:n.1841-32_1841-29delinsTGGC
ENST00000263388.6:c.1841-32_1841-29delinsTGGC	ENSP00000263388.1:n.1841-32_1841-29delinsTGGC
ENST00000601011.1:c.1838-32_1838-29delinsTGGC	ENSP00000473138.1:n.1838-32_1838-29delinsTGGC
NM_000435.2:c.1841-32_1841-29delinsTGGC	NP_000426.2:n.1841-32_1841-29delinsTGGC
XM_005259924.3:c.1841-32_1841-29delinsTGGC	XP_005259981.1:n.1841-32_1841-29delinsTGGC
XM_005259924.4:c.1841-32_1841-29delinsTGGC	XP_005259981.1:n.1841-32_1841-29delinsTGGC
NM_000435.3:c.1841-32_1841-29delinsTGGC MANE Select	NP_000426.2:n.1841-32_1841-29delinsTGGC