Canonical Allele Identifier: CA2735796054
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145421273

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180639_15180640insA , CM000681.2:g.15180639_15180640insA GRCh38
NC_000019.9:g.15291450_15291451insA , CM000681.1:g.15291450_15291451insA GRCh37
NC_000019.8:g.15152450_15152451insA NCBI36
NG_009819.1:g.25342_25343insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3142+41_3142+42insT MANE Select ENSP00000263388.1:n.3142+41_3142+42insT
ENST00000263388.6:c.3142+41_3142+42insT ENSP00000263388.1:n.3142+41_3142+42insT
ENST00000601011.1:c.2983+41_2983+42insT ENSP00000473138.1:n.2983+41_2983+42insT
NM_000435.2:c.3142+41_3142+42insT NP_000426.2:n.3142+41_3142+42insT
XM_005259924.3:c.2986+41_2986+42insT XP_005259981.1:n.2986+41_2986+42insT
XM_005259924.4:c.2986+41_2986+42insT XP_005259981.1:n.2986+41_2986+42insT
NM_000435.3:c.3142+41_3142+42insT MANE Select NP_000426.2:n.3142+41_3142+42insT