Canonical Allele Identifier: CA2678132306
Gene: NOTCH4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202783_32202785del , CM000668.2:g.32202783_32202785del GRCh38
NC_000006.11:g.32170560_32170562del , CM000668.1:g.32170560_32170562del GRCh37
NC_000006.10:g.32278538_32278540del NCBI36
NG_028190.1:g.26284_26286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-185_3232-183del MANE Select ENSP00000364163.3:n.3232-185_3232-183del
ENST00000474612.1:n.1133_1135del
NM_004557.3:c.3232-185_3232-183del NP_004548.3:n.3232-185_3232-183del
NR_134949.1:n.3472+986_3472+988del
NR_134950.1:n.3370+986_3370+988del
NM_004557.4:c.3232-185_3232-183del MANE Select NP_004548.3:n.3232-185_3232-183del
NR_134949.2:n.3472+986_3472+988del
NR_134950.2:n.3370+986_3370+988del