Canonical Allele Identifier: CA2692633684

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136499077-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499079_136499081del , CM000671.2:g.136499079_136499081del	GRCh38
NC_000009.11:g.139393531_139393533del , CM000671.1:g.139393531_139393533del	GRCh37
NC_000009.10:g.138513352_138513354del	NCBI36
NG_007458.1:g.51707_51709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6082+32_6082+34del MANE Select	ENSP00000498587.1:n.6082+32_6082+34del
ENST00000679595.1:c.*1122+32_*1122+34del	ENSP00000506241.1:n.*1122+32_*1122+34del
ENST00000679969.1:n.2595_2597del
ENST00000680003.1:n.2414+32_2414+34del
ENST00000680133.1:c.5968+32_5968+34del	ENSP00000505319.1:n.5968+32_5968+34del
ENST00000680218.1:c.5962+32_5962+34del	ENSP00000505339.1:n.5962+32_5962+34del
ENST00000680668.1:c.5968+32_5968+34del	ENSP00000506336.1:n.5968+32_5968+34del
ENST00000680778.1:c.3679+32_3679+34del	ENSP00000506033.1:n.3679+32_3679+34del
ENST00000680924.1:c.*3482+32_*3482+34del	ENSP00000506031.1:n.*3482+32_*3482+34del
ENST00000681135.1:c.*3691+32_*3691+34del	ENSP00000506636.1:n.*3691+32_*3691+34del
ENST00000681298.1:n.4187+32_4187+34del
ENST00000681454.1:c.*5318+32_*5318+34del	ENSP00000505763.1:n.*5318+32_*5318+34del
ENST00000277541.6:c.6082+32_6082+34del	ENSP00000277541.6:n.6082+32_6082+34del
NM_017617.3:c.6082+32_6082+34del	NP_060087.3:n.6082+32_6082+34del
XM_011518717.1:c.5383+32_5383+34del	XP_011517019.1:n.5383+32_5383+34del
NM_017617.5:c.6082+32_6082+34del MANE Select	NP_060087.3:n.6082+32_6082+34del
XM_011518717.2:c.5359+32_5359+34del	XP_011517019.2:n.5359+32_5359+34del