Canonical Allele Identifier: CA2324747842
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187494_15187495delinsAC , CM000681.2:g.15187494_15187495delinsAC GRCh38
NC_000019.9:g.15298305_15298306delinsAC , CM000681.1:g.15298305_15298306delinsAC GRCh37
NC_000019.8:g.15159305_15159306delinsAC NCBI36
NG_009819.1:g.18487_18488delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-157_1607-156delinsGT MANE Select ENSP00000263388.1:n.1607-157_1607-156delinsGT
ENST00000263388.6:c.1607-157_1607-156delinsGT ENSP00000263388.1:n.1607-157_1607-156delinsGT
ENST00000601011.1:c.1604-157_1604-156delinsGT ENSP00000473138.1:n.1604-157_1604-156delinsGT
NM_000435.2:c.1607-157_1607-156delinsGT NP_000426.2:n.1607-157_1607-156delinsGT
XM_005259924.3:c.1607-157_1607-156delinsGT XP_005259981.1:n.1607-157_1607-156delinsGT
XM_005259924.4:c.1607-157_1607-156delinsGT XP_005259981.1:n.1607-157_1607-156delinsGT
NM_000435.3:c.1607-157_1607-156delinsGT MANE Select NP_000426.2:n.1607-157_1607-156delinsGT