Canonical Allele Identifier: CA2692634211

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504723-G-GCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504724_136504725insTCC , CM000671.2:g.136504724_136504725insTCC	GRCh38
NC_000009.11:g.139399176_139399177insTCC , CM000671.1:g.139399176_139399177insTCC	GRCh37
NC_000009.10:g.138518997_138518998insTCC	NCBI36
NG_007458.1:g.46063_46064insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2774_2775insGAG
ENST00000651671.1:c.4967_4968insGAG MANE Select	ENSP00000498587.1:p.Gly1656_Ser1657insSer
ENST00000679595.1:c.4967_4968insGAG	ENSP00000506241.1:p.Gly1656_Ser1657insSer
ENST00000680133.1:c.4853_4854insGAG	ENSP00000505319.1:p.Gly1618_Ser1619insSer
ENST00000680218.1:c.4847_4848insGAG	ENSP00000505339.1:p.Gly1616_Ser1617insSer
ENST00000680668.1:c.4853_4854insGAG	ENSP00000506336.1:p.Gly1618_Ser1619insSer
ENST00000680778.1:c.2564_2565insGAG	ENSP00000506033.1:p.Gly855_Ser856insSer
ENST00000680924.1:c.*2367_*2368insGAG	ENSP00000506031.1:n.*2367_*2368insGAG
ENST00000681135.1:c.*2576_*2577insGAG	ENSP00000506636.1:n.*2576_*2577insGAG
ENST00000681298.1:n.1780_1781insGAG
ENST00000681454.1:c.*4203_*4204insGAG	ENSP00000505763.1:n.*4203_*4204insGAG
ENST00000277541.6:c.4967_4968insGAG	ENSP00000277541.6:p.Gly1656_Ser1657insSer
ENST00000494783.1:n.122_123insGAG
NM_017617.3:c.4967_4968insGAG	NP_060087.3:p.Gly1656_Ser1657insSer
XM_011518717.1:c.4268_4269insGAG	XP_011517019.1:p.Gly1423_Ser1424insSer
NM_017617.5:c.4967_4968insGAG MANE Select	NP_060087.3:p.Gly1656_Ser1657insSer
XM_011518717.2:c.4244_4245insGAG	XP_011517019.2:p.Gly1415_Ser1416insSer