Canonical Allele Identifier: CA5341871

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 669344
• ClinVar RCV Id: RCV000828391
• dbSNP Id: rs775945192
• ExAC: 9:139412572 CCT / C
• gnomAD v2: 9-139412572-CCT-C
• gnomAD v3: 9-136518120-CCT-C
• gnomAD v4: 9-136518120-CCT-C
• MyVariant Identifiers: chr9:g.139412573_139412574del (hg19) ; chr9:g.136518121_136518122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518121_136518122del , CM000671.2:g.136518121_136518122del	GRCh38
NC_000009.11:g.139412573_139412574del , CM000671.1:g.139412573_139412574del	GRCh37
NC_000009.10:g.138532394_138532395del	NCBI36
NG_007458.1:g.32665_32666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1255+15_1255+16del MANE Select	ENSP00000498587.1:n.1255+15_1255+16del
ENST00000679595.1:c.1255+15_1255+16del	ENSP00000506241.1:n.1255+15_1255+16del
ENST00000680133.1:c.1255+15_1255+16del	ENSP00000505319.1:n.1255+15_1255+16del
ENST00000680218.1:c.1255+15_1255+16del	ENSP00000505339.1:n.1255+15_1255+16del
ENST00000680668.1:c.1255+15_1255+16del	ENSP00000506336.1:n.1255+15_1255+16del
ENST00000680924.1:c.1255+15_1255+16del	ENSP00000506031.1:n.1255+15_1255+16del
ENST00000681135.1:c.1255+15_1255+16del	ENSP00000506636.1:n.1255+15_1255+16del
ENST00000681454.1:c.*491+15_*491+16del	ENSP00000505763.1:n.*491+15_*491+16del
ENST00000277541.6:c.1255+15_1255+16del	ENSP00000277541.6:n.1255+15_1255+16del
NM_017617.3:c.1255+15_1255+16del	NP_060087.3:n.1255+15_1255+16del
XM_011518717.1:c.556+15_556+16del	XP_011517019.1:n.556+15_556+16del
NM_017617.5:c.1255+15_1255+16del MANE Select	NP_060087.3:n.1255+15_1255+16del
XM_011518717.2:c.532+15_532+16del	XP_011517019.2:n.532+15_532+16del