Canonical Allele Identifier: CA2813728348
Gene: NOTCH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187471_15187472insGGGGGGGG , CM000681.2:g.15187471_15187472insGGGGGGGG GRCh38
NC_000019.9:g.15298282_15298283insGGGGGGGG , CM000681.1:g.15298282_15298283insGGGGGGGG GRCh37
NC_000019.8:g.15159282_15159283insGGGGGGGG NCBI36
NG_009819.1:g.18512_18513insCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-132_1607-131insCCCCCCCC MANE Select ENSP00000263388.1:n.1607-132_1607-131insCCCCCCCC
ENST00000263388.6:c.1607-132_1607-131insCCCCCCCC ENSP00000263388.1:n.1607-132_1607-131insCCCCCCCC
ENST00000601011.1:c.1604-132_1604-131insCCCCCCCC ENSP00000473138.1:n.1604-132_1604-131insCCCCCCCC
NM_000435.2:c.1607-132_1607-131insCCCCCCCC NP_000426.2:n.1607-132_1607-131insCCCCCCCC
XM_005259924.3:c.1607-132_1607-131insCCCCCCCC XP_005259981.1:n.1607-132_1607-131insCCCCCCCC
XM_005259924.4:c.1607-132_1607-131insCCCCCCCC XP_005259981.1:n.1607-132_1607-131insCCCCCCCC
NM_000435.3:c.1607-132_1607-131insCCCCCCCC MANE Select NP_000426.2:n.1607-132_1607-131insCCCCCCCC