Canonical Allele Identifier: CA2324747774

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187389_15187394delinsCAAGTG , CM000681.2:g.15187389_15187394delinsCAAGTG	GRCh38
NC_000019.9:g.15298200_15298205delinsCAAGTG , CM000681.1:g.15298200_15298205delinsCAAGTG	GRCh37
NC_000019.8:g.15159200_15159205delinsCAAGTG	NCBI36
NG_009819.1:g.18588_18593delinsCACTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-56_1607-51delinsCACTTG MANE Select	ENSP00000263388.1:n.1607-56_1607-51delinsCACTTG
ENST00000263388.6:c.1607-56_1607-51delinsCACTTG	ENSP00000263388.1:n.1607-56_1607-51delinsCACTTG
ENST00000601011.1:c.1604-56_1604-51delinsCACTTG	ENSP00000473138.1:n.1604-56_1604-51delinsCACTTG
NM_000435.2:c.1607-56_1607-51delinsCACTTG	NP_000426.2:n.1607-56_1607-51delinsCACTTG
XM_005259924.3:c.1607-56_1607-51delinsCACTTG	XP_005259981.1:n.1607-56_1607-51delinsCACTTG
XM_005259924.4:c.1607-56_1607-51delinsCACTTG	XP_005259981.1:n.1607-56_1607-51delinsCACTTG
NM_000435.3:c.1607-56_1607-51delinsCACTTG MANE Select	NP_000426.2:n.1607-56_1607-51delinsCACTTG