Canonical Allele Identifier: CA2583064563
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187045_15187055del , CM000681.2:g.15187045_15187055del GRCh38
NC_000019.9:g.15297856_15297866del , CM000681.1:g.15297856_15297866del GRCh37
NC_000019.8:g.15158856_15158866del NCBI36
NG_009819.1:g.18930_18940del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1840+53_1841-54del MANE Select ENSP00000263388.1:n.1840+53_1841-54del
ENST00000263388.6:c.1840+53_1841-54del ENSP00000263388.1:n.1840+53_1841-54del
ENST00000601011.1:c.1837+53_1838-54del ENSP00000473138.1:n.1837+53_1838-54del
NM_000435.2:c.1840+53_1841-54del NP_000426.2:n.1840+53_1841-54del
XM_005259924.3:c.1840+53_1841-54del XP_005259981.1:n.1840+53_1841-54del
XM_005259924.4:c.1840+53_1841-54del XP_005259981.1:n.1840+53_1841-54del
NM_000435.3:c.1840+53_1841-54del MANE Select NP_000426.2:n.1840+53_1841-54del