Canonical Allele Identifier: CA2324744166

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2046825536
• gnomAD v4: 19-15179975-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15179979_15179980del , CM000681.2:g.15179979_15179980del	GRCh38
NC_000019.9:g.15290790_15290791del , CM000681.1:g.15290790_15290791del	GRCh37
NC_000019.8:g.15151790_15151791del	NCBI36
NG_009819.1:g.26005_26006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3327+95_3327+96del MANE Select	ENSP00000263388.1:n.3327+95_3327+96del
ENST00000263388.6:c.3327+95_3327+96del	ENSP00000263388.1:n.3327+95_3327+96del
ENST00000601011.1:c.3168+95_3168+96del	ENSP00000473138.1:n.3168+95_3168+96del
NM_000435.2:c.3327+95_3327+96del	NP_000426.2:n.3327+95_3327+96del
XM_005259924.3:c.3171+95_3171+96del	XP_005259981.1:n.3171+95_3171+96del
XM_005259924.4:c.3171+95_3171+96del	XP_005259981.1:n.3171+95_3171+96del
NM_000435.3:c.3327+95_3327+96del MANE Select	NP_000426.2:n.3327+95_3327+96del