Canonical Allele Identifier: CA2324744422

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180545_15180546delinsAC , CM000681.2:g.15180545_15180546delinsAC	GRCh38
NC_000019.9:g.15291356_15291357delinsAC , CM000681.1:g.15291356_15291357delinsAC	GRCh37
NC_000019.8:g.15152356_15152357delinsAC	NCBI36
NG_009819.1:g.25436_25437delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3142+135_3142+136delinsGT MANE Select	ENSP00000263388.1:n.3142+135_3142+136delinsGT
ENST00000263388.6:c.3142+135_3142+136delinsGT	ENSP00000263388.1:n.3142+135_3142+136delinsGT
ENST00000601011.1:c.2983+135_2983+136delinsGT	ENSP00000473138.1:n.2983+135_2983+136delinsGT
NM_000435.2:c.3142+135_3142+136delinsGT	NP_000426.2:n.3142+135_3142+136delinsGT
XM_005259924.3:c.2986+135_2986+136delinsGT	XP_005259981.1:n.2986+135_2986+136delinsGT
XM_005259924.4:c.2986+135_2986+136delinsGT	XP_005259981.1:n.2986+135_2986+136delinsGT
NM_000435.3:c.3142+135_3142+136delinsGT MANE Select	NP_000426.2:n.3142+135_3142+136delinsGT