Canonical Allele Identifier: CA2324747837

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187489_15187502delinsCACTTACTTCCACT , CM000681.2:g.15187489_15187502delinsCACTTACTTCCACT	GRCh38
NC_000019.9:g.15298300_15298313delinsCACTTACTTCCACT , CM000681.1:g.15298300_15298313delinsCACTTACTTCCACT	GRCh37
NC_000019.8:g.15159300_15159313delinsCACTTACTTCCACT	NCBI36
NG_009819.1:g.18480_18493delinsAGTGGAAGTAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-164_1607-151delinsAGTGGAAGTAAGTG MANE Select	ENSP00000263388.1:n.1607-164_1607-151delinsAGTGGAAGTAAGTG
ENST00000263388.6:c.1607-164_1607-151delinsAGTGGAAGTAAGTG	ENSP00000263388.1:n.1607-164_1607-151delinsAGTGGAAGTAAGTG
ENST00000601011.1:c.1604-164_1604-151delinsAGTGGAAGTAAGTG	ENSP00000473138.1:n.1604-164_1604-151delinsAGTGGAAGTAAGTG
NM_000435.2:c.1607-164_1607-151delinsAGTGGAAGTAAGTG	NP_000426.2:n.1607-164_1607-151delinsAGTGGAAGTAAGTG
XM_005259924.3:c.1607-164_1607-151delinsAGTGGAAGTAAGTG	XP_005259981.1:n.1607-164_1607-151delinsAGTGGAAGTAAGTG
XM_005259924.4:c.1607-164_1607-151delinsAGTGGAAGTAAGTG	XP_005259981.1:n.1607-164_1607-151delinsAGTGGAAGTAAGTG
NM_000435.3:c.1607-164_1607-151delinsAGTGGAAGTAAGTG MANE Select	NP_000426.2:n.1607-164_1607-151delinsAGTGGAAGTAAGTG