Canonical Allele Identifier: CA861072540

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1305592861
• gnomAD v3: 9-136497255-TGGGCTTGCGGACCTTCTTGCCCTGCACGCC-T
• gnomAD v4: 9-136497255-TGGGCTTGCGGACCTTCTTGCCCTGCACGCC-T
• MyVariant Identifiers: chr9:g.139391708_139391737del (hg19) ; chr9:g.136497256_136497285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497263_136497292del , CM000671.2:g.136497263_136497292del	GRCh38
NC_000009.11:g.139391715_139391744del , CM000671.1:g.139391715_139391744del	GRCh37
NC_000009.10:g.138511536_138511565del	NCBI36
NG_007458.1:g.53502_53531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6454_6483del MANE Select	ENSP00000498587.1:p.Gly2152_Pro2161del
ENST00000679595.1:c.*1494_*1523del	ENSP00000506241.1:n.*1494_*1523del
ENST00000679969.1:n.3050_3079del
ENST00000680003.1:n.2786_2815del
ENST00000680133.1:c.6340_6369del	ENSP00000505319.1:p.Gly2114_Pro2123del
ENST00000680218.1:c.6334_6363del	ENSP00000505339.1:p.Gly2112_Pro2121del
ENST00000680668.1:c.6340_6369del	ENSP00000506336.1:p.Gly2114_Pro2123del
ENST00000680778.1:c.4051_4080del	ENSP00000506033.1:p.Gly1351_Pro1360del
ENST00000680924.1:c.*3854_*3883del	ENSP00000506031.1:n.*3854_*3883del
ENST00000681135.1:c.*4063_*4092del	ENSP00000506636.1:n.*4063_*4092del
ENST00000681298.1:n.4559_4588del
ENST00000681454.1:c.*5690_*5719del	ENSP00000505763.1:n.*5690_*5719del
ENST00000277541.6:c.6454_6483del	ENSP00000277541.6:p.Gly2152_Pro2161del
NM_017617.3:c.6454_6483del	NP_060087.3:p.Gly2152_Pro2161del
XM_011518717.1:c.5755_5784del	XP_011517019.1:p.Gly1919_Pro1928del
NM_017617.5:c.6454_6483del MANE Select	NP_060087.3:p.Gly2152_Pro2161del
XM_011518717.2:c.5731_5760del	XP_011517019.2:p.Gly1911_Pro1920del