Canonical Allele Identifier: CA1619472687
Gene: NOTCH4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220531_32220533delinsTCA , CM000668.2:g.32220531_32220533delinsTCA GRCh38
NC_000006.11:g.32188308_32188310delinsTCA , CM000668.1:g.32188308_32188310delinsTCA GRCh37
NC_000006.10:g.32296286_32296288delinsTCA NCBI36
NG_028190.1:g.8535_8537delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1031_1033delinsTGA MANE Select ENSP00000364163.3:p.Val344=
ENST00000473562.1:n.1160_1162delinsTGA
NM_004557.3:c.1031_1033delinsTGA NP_004548.3:p.Val344=
NR_134949.1:n.1170_1172delinsTGA
NR_134950.1:n.1170_1172delinsTGA
NM_004557.4:c.1031_1033delinsTGA MANE Select NP_004548.3:p.Val344=
NR_134949.2:n.1170_1172delinsTGA
NR_134950.2:n.1170_1172delinsTGA