Canonical Allele Identifier: CA591367488

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1379030980
• gnomAD v2: 9-139412506-CCT-C
• gnomAD v3: 9-136518054-CCT-C
• gnomAD v4: 9-136518054-CCT-C
• MyVariant Identifiers: chr9:g.139412507_139412508del (hg19) ; chr9:g.136518055_136518056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518055_136518056del , CM000671.2:g.136518055_136518056del	GRCh38
NC_000009.11:g.139412507_139412508del , CM000671.1:g.139412507_139412508del	GRCh37
NC_000009.10:g.138532328_138532329del	NCBI36
NG_007458.1:g.32731_32732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1255+81_1255+82del MANE Select	ENSP00000498587.1:n.1255+81_1255+82del
ENST00000679595.1:c.1255+81_1255+82del	ENSP00000506241.1:n.1255+81_1255+82del
ENST00000680133.1:c.1255+81_1255+82del	ENSP00000505319.1:n.1255+81_1255+82del
ENST00000680218.1:c.1255+81_1255+82del	ENSP00000505339.1:n.1255+81_1255+82del
ENST00000680668.1:c.1255+81_1255+82del	ENSP00000506336.1:n.1255+81_1255+82del
ENST00000680924.1:c.1255+81_1255+82del	ENSP00000506031.1:n.1255+81_1255+82del
ENST00000681135.1:c.1255+81_1255+82del	ENSP00000506636.1:n.1255+81_1255+82del
ENST00000681454.1:c.*491+81_*491+82del	ENSP00000505763.1:n.*491+81_*491+82del
ENST00000277541.6:c.1255+81_1255+82del	ENSP00000277541.6:n.1255+81_1255+82del
NM_017617.3:c.1255+81_1255+82del	NP_060087.3:n.1255+81_1255+82del
XM_011518717.1:c.556+81_556+82del	XP_011517019.1:n.556+81_556+82del
NM_017617.5:c.1255+81_1255+82del MANE Select	NP_060087.3:n.1255+81_1255+82del
XM_011518717.2:c.532+81_532+82del	XP_011517019.2:n.532+81_532+82del