Canonical Allele Identifier: CA2324747838

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187489_15187505delinsCACTTACTTCCACTCCA , CM000681.2:g.15187489_15187505delinsCACTTACTTCCACTCCA	GRCh38
NC_000019.9:g.15298300_15298316delinsCACTTACTTCCACTCCA , CM000681.1:g.15298300_15298316delinsCACTTACTTCCACTCCA	GRCh37
NC_000019.8:g.15159300_15159316delinsCACTTACTTCCACTCCA	NCBI36
NG_009819.1:g.18477_18493delinsTGGAGTGGAAGTAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG MANE Select	ENSP00000263388.1:n.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG
ENST00000263388.6:c.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG	ENSP00000263388.1:n.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG
ENST00000601011.1:c.1604-167_1604-151delinsTGGAGTGGAAGTAAGTG	ENSP00000473138.1:n.1604-167_1604-151delinsTGGAGTGGAAGTAAGTG
NM_000435.2:c.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG	NP_000426.2:n.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG
XM_005259924.3:c.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG	XP_005259981.1:n.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG
XM_005259924.4:c.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG	XP_005259981.1:n.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG
NM_000435.3:c.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG MANE Select	NP_000426.2:n.1607-167_1607-151delinsTGGAGTGGAAGTAAGTG