Canonical Allele Identifier: CA2583063030
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15180566-A-ACCCCATCATGCCCCATAGGCTCTGTGGCACC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180570_15180600dup , CM000681.2:g.15180570_15180600dup GRCh38
NC_000019.9:g.15291381_15291411dup , CM000681.1:g.15291381_15291411dup GRCh37
NC_000019.8:g.15152381_15152411dup NCBI36
NG_009819.1:g.25385_25415dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3142+84_3142+114dup MANE Select ENSP00000263388.1:n.3142+84_3142+114dup
ENST00000263388.6:c.3142+84_3142+114dup ENSP00000263388.1:n.3142+84_3142+114dup
ENST00000601011.1:c.2983+84_2983+114dup ENSP00000473138.1:n.2983+84_2983+114dup
NM_000435.2:c.3142+84_3142+114dup NP_000426.2:n.3142+84_3142+114dup
XM_005259924.3:c.2986+84_2986+114dup XP_005259981.1:n.2986+84_2986+114dup
XM_005259924.4:c.2986+84_2986+114dup XP_005259981.1:n.2986+84_2986+114dup
NM_000435.3:c.3142+84_3142+114dup MANE Select NP_000426.2:n.3142+84_3142+114dup
Search 100 bp 5'
Search 100 bp 3'