Canonical Allele Identifier: CA2576654808
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187387del , CM000681.2:g.15187387del GRCh38
NC_000019.9:g.15298198del , CM000681.1:g.15298198del GRCh37
NC_000019.8:g.15159198del NCBI36
NG_009819.1:g.18597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-47del MANE Select ENSP00000263388.1:n.1607-47del
ENST00000263388.6:c.1607-47del ENSP00000263388.1:n.1607-47del
ENST00000601011.1:c.1604-47del ENSP00000473138.1:n.1604-47del
NM_000435.2:c.1607-47del NP_000426.2:n.1607-47del
XM_005259924.3:c.1607-47del XP_005259981.1:n.1607-47del
XM_005259924.4:c.1607-47del XP_005259981.1:n.1607-47del
NM_000435.3:c.1607-47del MANE Select NP_000426.2:n.1607-47del