Canonical Allele Identifier: CA2813728356
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187471_15187472insGCCCCCCCCCCCCCCC , CM000681.2:g.15187471_15187472insGCCCCCCCCCCCCCCC GRCh38
NC_000019.9:g.15298282_15298283insGCCCCCCCCCCCCCCC , CM000681.1:g.15298282_15298283insGCCCCCCCCCCCCCCC GRCh37
NC_000019.8:g.15159282_15159283insGCCCCCCCCCCCCCCC NCBI36
NG_009819.1:g.18510_18511insGGGGGGGGGGGGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-134_1607-133insGGGGGGGGGGGGGGGC MANE Select ENSP00000263388.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGC
ENST00000263388.6:c.1607-134_1607-133insGGGGGGGGGGGGGGGC ENSP00000263388.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGC
ENST00000601011.1:c.1604-134_1604-133insGGGGGGGGGGGGGGGC ENSP00000473138.1:n.1604-134_1604-133insGGGGGGGGGGGGGGGC
NM_000435.2:c.1607-134_1607-133insGGGGGGGGGGGGGGGC NP_000426.2:n.1607-134_1607-133insGGGGGGGGGGGGGGGC
XM_005259924.3:c.1607-134_1607-133insGGGGGGGGGGGGGGGC XP_005259981.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGC
XM_005259924.4:c.1607-134_1607-133insGGGGGGGGGGGGGGGC XP_005259981.1:n.1607-134_1607-133insGGGGGGGGGGGGGGGC
NM_000435.3:c.1607-134_1607-133insGGGGGGGGGGGGGGGC MANE Select NP_000426.2:n.1607-134_1607-133insGGGGGGGGGGGGGGGC