Canonical Allele Identifier: CA2692634144

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504701-T-TCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504710_136504712dup , CM000671.2:g.136504710_136504712dup	GRCh38
NC_000009.11:g.139399162_139399164dup , CM000671.1:g.139399162_139399164dup	GRCh37
NC_000009.10:g.138518983_138518985dup	NCBI36
NG_007458.1:g.46083_46085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2794_2796dup
ENST00000651671.1:c.4987_4989dup MANE Select	ENSP00000498587.1:p.Arg1663_Arg1664insArg
ENST00000679595.1:c.4987_4989dup	ENSP00000506241.1:p.Arg1663_Arg1664insArg
ENST00000680133.1:c.4873_4875dup	ENSP00000505319.1:p.Arg1625_Arg1626insArg
ENST00000680218.1:c.4867_4869dup	ENSP00000505339.1:p.Arg1623_Arg1624insArg
ENST00000680668.1:c.4873_4875dup	ENSP00000506336.1:p.Arg1625_Arg1626insArg
ENST00000680778.1:c.2584_2586dup	ENSP00000506033.1:p.Arg862_Arg863insArg
ENST00000680924.1:c.*2387_*2389dup	ENSP00000506031.1:n.*2387_*2389dup
ENST00000681135.1:c.*2596_*2598dup	ENSP00000506636.1:n.*2596_*2598dup
ENST00000681298.1:n.1800_1802dup
ENST00000681454.1:c.*4223_*4225dup	ENSP00000505763.1:n.*4223_*4225dup
ENST00000277541.6:c.4987_4989dup	ENSP00000277541.6:p.Arg1663_Arg1664insArg
ENST00000494783.1:n.142_144dup
NM_017617.3:c.4987_4989dup	NP_060087.3:p.Arg1663_Arg1664insArg
XM_011518717.1:c.4288_4290dup	XP_011517019.1:p.Arg1430_Arg1431insArg
NM_017617.5:c.4987_4989dup MANE Select	NP_060087.3:p.Arg1663_Arg1664insArg
XM_011518717.2:c.4264_4266dup	XP_011517019.2:p.Arg1422_Arg1423insArg