Canonical Allele Identifier: CA2692634249

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504848-TCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504852_136504854del , CM000671.2:g.136504852_136504854del	GRCh38
NC_000009.11:g.139399304_139399306del , CM000671.1:g.139399304_139399306del	GRCh37
NC_000009.10:g.138519125_138519127del	NCBI36
NG_007458.1:g.45936_45938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2647_2649del
ENST00000651671.1:c.4840_4842del MANE Select	ENSP00000498587.1:p.Gln1614del
ENST00000679595.1:c.4840_4842del	ENSP00000506241.1:p.Gln1614del
ENST00000680133.1:c.4726_4728del	ENSP00000505319.1:p.Gln1576del
ENST00000680218.1:c.4720_4722del	ENSP00000505339.1:p.Gln1574del
ENST00000680668.1:c.4726_4728del	ENSP00000506336.1:p.Gln1576del
ENST00000680778.1:c.2437_2439del	ENSP00000506033.1:p.Gln813del
ENST00000680924.1:c.*2240_*2242del	ENSP00000506031.1:n.*2240_*2242del
ENST00000681135.1:c.*2449_*2451del	ENSP00000506636.1:n.*2449_*2451del
ENST00000681298.1:n.1653_1655del
ENST00000681454.1:c.*4076_*4078del	ENSP00000505763.1:n.*4076_*4078del
ENST00000277541.6:c.4840_4842del	ENSP00000277541.6:p.Gln1614del
NM_017617.3:c.4840_4842del	NP_060087.3:p.Gln1614del
XM_011518717.1:c.4141_4143del	XP_011517019.1:p.Gln1381del
NM_017617.5:c.4840_4842del MANE Select	NP_060087.3:p.Gln1614del
XM_011518717.2:c.4117_4119del	XP_011517019.2:p.Gln1373del