Canonical Allele Identifier: CA566696399
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1389008901
gnomAD v2: 6-32170443-ACT-A
gnomAD v3: 6-32202666-ACT-A
gnomAD v4: 6-32202666-ACT-A
MyVariant Identifiers: chr6:g.32170444_32170445del (hg19) chr6:g.32202667_32202668del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202669_32202670del , CM000668.2:g.32202669_32202670del GRCh38
NC_000006.11:g.32170446_32170447del , CM000668.1:g.32170446_32170447del GRCh37
NC_000006.10:g.32278424_32278425del NCBI36
NG_028190.1:g.26400_26401del

Transcript Alleles

HGVS Amino-acid change
ENST00000375023.3:c.3232-69_3232-68del MANE Select ENSP00000364163.3:n.3232-69_3232-68del
ENST00000474612.1:n.1249_1250del
NM_004557.3:c.3232-69_3232-68del NP_004548.3:n.3232-69_3232-68del
NR_134949.1:n.3472+1102_3472+1103del
NR_134950.1:n.3370+1102_3370+1103del
NM_004557.4:c.3232-69_3232-68del MANE Select NP_004548.3:n.3232-69_3232-68del
NR_134949.2:n.3472+1102_3472+1103del
NR_134950.2:n.3370+1102_3370+1103del
Search 100 bp 5'
Search 100 bp 3'