Canonical Allele Identifier: CA2580611882
Gene: NOTCH4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220467_32220469delinsAGT , CM000668.2:g.32220467_32220469delinsAGT GRCh38
NC_000006.11:g.32188244_32188246delinsAGT , CM000668.1:g.32188244_32188246delinsAGT GRCh37
NC_000006.10:g.32296222_32296224delinsAGT NCBI36
NG_028190.1:g.8599_8601delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1095_1097delinsACT MANE Select ENSP00000364163.3:p.Pro366Leu
ENST00000473562.1:n.1224_1226delinsACT
NM_004557.3:c.1095_1097delinsACT NP_004548.3:p.Pro366Leu
NR_134949.1:n.1234_1236delinsACT
NR_134950.1:n.1234_1236delinsACT
NM_004557.4:c.1095_1097delinsACT MANE Select NP_004548.3:p.Pro366Leu
NR_134949.2:n.1234_1236delinsACT
NR_134950.2:n.1234_1236delinsACT