Canonical Allele Identifier: CA1619472680
Gene: NOTCH4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220521_32220525delinsCCCCA , CM000668.2:g.32220521_32220525delinsCCCCA GRCh38
NC_000006.11:g.32188298_32188302delinsCCCCA , CM000668.1:g.32188298_32188302delinsCCCCA GRCh37
NC_000006.10:g.32296276_32296280delinsCCCCA NCBI36
NG_028190.1:g.8543_8547delinsTGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1039_1043delinsTGGGG MANE Select ENSP00000364163.3:p.Trp347=
ENST00000473562.1:n.1168_1172delinsTGGGG
NM_004557.3:c.1039_1043delinsTGGGG NP_004548.3:p.Trp347=
NR_134949.1:n.1178_1182delinsTGGGG
NR_134950.1:n.1178_1182delinsTGGGG
NM_004557.4:c.1039_1043delinsTGGGG MANE Select NP_004548.3:p.Trp347=
NR_134949.2:n.1178_1182delinsTGGGG
NR_134950.2:n.1178_1182delinsTGGGG