Canonical Allele Identifier: CA2324747779
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187395_15187396delinsAG , CM000681.2:g.15187395_15187396delinsAG GRCh38
NC_000019.9:g.15298206_15298207delinsAG , CM000681.1:g.15298206_15298207delinsAG GRCh37
NC_000019.8:g.15159206_15159207delinsAG NCBI36
NG_009819.1:g.18586_18587delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-58_1607-57delinsCT MANE Select ENSP00000263388.1:n.1607-58_1607-57delinsCT
ENST00000263388.6:c.1607-58_1607-57delinsCT ENSP00000263388.1:n.1607-58_1607-57delinsCT
ENST00000601011.1:c.1604-58_1604-57delinsCT ENSP00000473138.1:n.1604-58_1604-57delinsCT
NM_000435.2:c.1607-58_1607-57delinsCT NP_000426.2:n.1607-58_1607-57delinsCT
XM_005259924.3:c.1607-58_1607-57delinsCT XP_005259981.1:n.1607-58_1607-57delinsCT
XM_005259924.4:c.1607-58_1607-57delinsCT XP_005259981.1:n.1607-58_1607-57delinsCT
NM_000435.3:c.1607-58_1607-57delinsCT MANE Select NP_000426.2:n.1607-58_1607-57delinsCT