Canonical Allele Identifier: CA2324747820

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187471_15187478delinsGCCCCACC , CM000681.2:g.15187471_15187478delinsGCCCCACC	GRCh38
NC_000019.9:g.15298282_15298289delinsGCCCCACC , CM000681.1:g.15298282_15298289delinsGCCCCACC	GRCh37
NC_000019.8:g.15159282_15159289delinsGCCCCACC	NCBI36
NG_009819.1:g.18504_18511delinsGGTGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-140_1607-133delinsGGTGGGGC MANE Select	ENSP00000263388.1:n.1607-140_1607-133delinsGGTGGGGC
ENST00000263388.6:c.1607-140_1607-133delinsGGTGGGGC	ENSP00000263388.1:n.1607-140_1607-133delinsGGTGGGGC
ENST00000601011.1:c.1604-140_1604-133delinsGGTGGGGC	ENSP00000473138.1:n.1604-140_1604-133delinsGGTGGGGC
NM_000435.2:c.1607-140_1607-133delinsGGTGGGGC	NP_000426.2:n.1607-140_1607-133delinsGGTGGGGC
XM_005259924.3:c.1607-140_1607-133delinsGGTGGGGC	XP_005259981.1:n.1607-140_1607-133delinsGGTGGGGC
XM_005259924.4:c.1607-140_1607-133delinsGGTGGGGC	XP_005259981.1:n.1607-140_1607-133delinsGGTGGGGC
NM_000435.3:c.1607-140_1607-133delinsGGTGGGGC MANE Select	NP_000426.2:n.1607-140_1607-133delinsGGTGGGGC