Canonical Allele Identifier: CA783615743

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1443624808
• MyVariant Identifiers: chr19:g.15291236_15291237insAC (hg19) ; chr19:g.15180425_15180426insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180433_15180434dup , CM000681.2:g.15180433_15180434dup	GRCh38
NC_000019.9:g.15291244_15291245dup , CM000681.1:g.15291244_15291245dup	GRCh37
NC_000019.8:g.15152244_15152245dup	NCBI36
NG_009819.1:g.25555_25556dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3143-171_3143-170dup MANE Select	ENSP00000263388.1:n.3143-171_3143-170dup
ENST00000263388.6:c.3143-171_3143-170dup	ENSP00000263388.1:n.3143-171_3143-170dup
ENST00000601011.1:c.2984-171_2984-170dup	ENSP00000473138.1:n.2984-171_2984-170dup
NM_000435.2:c.3143-171_3143-170dup	NP_000426.2:n.3143-171_3143-170dup
XM_005259924.3:c.2987-171_2987-170dup	XP_005259981.1:n.2987-171_2987-170dup
XM_005259924.4:c.2987-171_2987-170dup	XP_005259981.1:n.2987-171_2987-170dup
NM_000435.3:c.3143-171_3143-170dup MANE Select	NP_000426.2:n.3143-171_3143-170dup