Canonical Allele Identifier: CA631943773

Gene: NOTCH3

Linked Data

• gnomAD v2: 19-15290715-C-CGGCG
• gnomAD v3: 19-15179904-C-CGGCG
• gnomAD v4: 19-15179904-C-CGGCG
• MyVariant Identifiers: chr19:g.15290715_15290716insGGCG (hg19) ; chr19:g.15179904_15179905insGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15179904_15179905insGGCG , CM000681.2:g.15179904_15179905insGGCG	GRCh38
NC_000019.9:g.15290715_15290716insGGCG , CM000681.1:g.15290715_15290716insGGCG	GRCh37
NC_000019.8:g.15151715_15151716insGGCG	NCBI36
NG_009819.1:g.26077_26078insCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3327+167_3327+168insCGCC MANE Select	ENSP00000263388.1:n.3327+167_3327+168insCGCC
ENST00000263388.6:c.3327+167_3327+168insCGCC	ENSP00000263388.1:n.3327+167_3327+168insCGCC
ENST00000601011.1:c.3168+167_3168+168insCGCC	ENSP00000473138.1:n.3168+167_3168+168insCGCC
NM_000435.2:c.3327+167_3327+168insCGCC	NP_000426.2:n.3327+167_3327+168insCGCC
XM_005259924.3:c.3171+167_3171+168insCGCC	XP_005259981.1:n.3171+167_3171+168insCGCC
XM_005259924.4:c.3171+167_3171+168insCGCC	XP_005259981.1:n.3171+167_3171+168insCGCC
NM_000435.3:c.3327+167_3327+168insCGCC MANE Select	NP_000426.2:n.3327+167_3327+168insCGCC