Canonical Allele Identifier: CA1130018811

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1843305955
• gnomAD v3: 9-136518073-TCTC-T
• gnomAD v4: 9-136518073-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136518074_136518076del , CM000671.2:g.136518074_136518076del	GRCh38
NC_000009.11:g.139412526_139412528del , CM000671.1:g.139412526_139412528del	GRCh37
NC_000009.10:g.138532347_138532349del	NCBI36
NG_007458.1:g.32711_32713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1255+61_1255+63del MANE Select	ENSP00000498587.1:n.1255+61_1255+63del
ENST00000679595.1:c.1255+61_1255+63del	ENSP00000506241.1:n.1255+61_1255+63del
ENST00000680133.1:c.1255+61_1255+63del	ENSP00000505319.1:n.1255+61_1255+63del
ENST00000680218.1:c.1255+61_1255+63del	ENSP00000505339.1:n.1255+61_1255+63del
ENST00000680668.1:c.1255+61_1255+63del	ENSP00000506336.1:n.1255+61_1255+63del
ENST00000680924.1:c.1255+61_1255+63del	ENSP00000506031.1:n.1255+61_1255+63del
ENST00000681135.1:c.1255+61_1255+63del	ENSP00000506636.1:n.1255+61_1255+63del
ENST00000681454.1:c.*491+61_*491+63del	ENSP00000505763.1:n.*491+61_*491+63del
ENST00000277541.6:c.1255+61_1255+63del	ENSP00000277541.6:n.1255+61_1255+63del
NM_017617.3:c.1255+61_1255+63del	NP_060087.3:n.1255+61_1255+63del
XM_011518717.1:c.556+61_556+63del	XP_011517019.1:n.556+61_556+63del
NM_017617.5:c.1255+61_1255+63del MANE Select	NP_060087.3:n.1255+61_1255+63del
XM_011518717.2:c.532+61_532+63del	XP_011517019.2:n.532+61_532+63del