Canonical Allele Identifier: CA2576654643

Gene: NOTCH3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180083del , CM000681.2:g.15180083del	GRCh38
NC_000019.9:g.15290894del , CM000681.1:g.15290894del	GRCh37
NC_000019.8:g.15151894del	NCBI36
NG_009819.1:g.25899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3316del MANE Select	ENSP00000263388.1:p.Tyr1106ThrfsTer?
ENST00000263388.6:c.3316del	ENSP00000263388.1:p.Tyr1106ThrfsTer?
ENST00000601011.1:c.3157del	ENSP00000473138.1:p.Tyr1053ThrfsTer?
NM_000435.2:c.3316del	NP_000426.2:p.Tyr1106ThrfsTer?
XM_005259924.3:c.3160del	XP_005259981.1:p.Tyr1054ThrfsTer?
XM_005259924.4:c.3160del	XP_005259981.1:p.Tyr1054ThrfsTer?
NM_000435.3:c.3316del MANE Select	NP_000426.2:p.Tyr1106ThrfsTer?