Canonical Allele Identifier: CA2692634049

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2736814
• ClinVar RCV Id: RCV003587432
• gnomAD v4: 9-136504663-TCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504669_136504672del , CM000671.2:g.136504669_136504672del	GRCh38
NC_000009.11:g.139399121_139399124del , CM000671.1:g.139399121_139399124del	GRCh37
NC_000009.10:g.138518942_138518945del	NCBI36
NG_007458.1:g.46120_46123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2825+6_2825+9del
ENST00000651671.1:c.5018+6_5018+9del MANE Select	ENSP00000498587.1:n.5018+6_5018+9del
ENST00000679595.1:c.5018+6_5018+9del	ENSP00000506241.1:n.5018+6_5018+9del
ENST00000680133.1:c.4904+6_4904+9del	ENSP00000505319.1:n.4904+6_4904+9del
ENST00000680218.1:c.4898+6_4898+9del	ENSP00000505339.1:n.4898+6_4898+9del
ENST00000680668.1:c.4904+6_4904+9del	ENSP00000506336.1:n.4904+6_4904+9del
ENST00000680778.1:c.2615+6_2615+9del	ENSP00000506033.1:n.2615+6_2615+9del
ENST00000680924.1:c.*2418+6_*2418+9del	ENSP00000506031.1:n.*2418+6_*2418+9del
ENST00000681135.1:c.*2627+6_*2627+9del	ENSP00000506636.1:n.*2627+6_*2627+9del
ENST00000681298.1:n.1831+6_1831+9del
ENST00000681454.1:c.*4254+6_*4254+9del	ENSP00000505763.1:n.*4254+6_*4254+9del
ENST00000277541.6:c.5018+6_5018+9del	ENSP00000277541.6:n.5018+6_5018+9del
ENST00000494783.1:n.173+6_173+9del
NM_017617.3:c.5018+6_5018+9del	NP_060087.3:n.5018+6_5018+9del
XM_011518717.1:c.4319+6_4319+9del	XP_011517019.1:n.4319+6_4319+9del
NM_017617.5:c.5018+6_5018+9del MANE Select	NP_060087.3:n.5018+6_5018+9del
XM_011518717.2:c.4295+6_4295+9del	XP_011517019.2:n.4295+6_4295+9del