Canonical Allele Identifier: CA2721098357

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318334

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497256_136497260del , CM000671.2:g.136497256_136497260del	GRCh38
NC_000009.11:g.139391708_139391712del , CM000671.1:g.139391708_139391712del	GRCh37
NC_000009.10:g.138511529_138511533del	NCBI36
NG_007458.1:g.53530_53534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6482_6486del MANE Select	ENSP00000498587.1:p.Pro2161GlnfsTer?
ENST00000679595.1:c.*1522_*1526del	ENSP00000506241.1:n.*1522_*1526del
ENST00000679969.1:n.3078_3082del
ENST00000680003.1:n.2814_2818del
ENST00000680133.1:c.6368_6372del	ENSP00000505319.1:p.Pro2123GlnfsTer?
ENST00000680218.1:c.6362_6366del	ENSP00000505339.1:p.Pro2121GlnfsTer?
ENST00000680668.1:c.6368_6372del	ENSP00000506336.1:p.Pro2123GlnfsTer?
ENST00000680778.1:c.4079_4083del	ENSP00000506033.1:p.Pro1360GlnfsTer?
ENST00000680924.1:c.*3882_*3886del	ENSP00000506031.1:n.*3882_*3886del
ENST00000681135.1:c.*4091_*4095del	ENSP00000506636.1:n.*4091_*4095del
ENST00000681298.1:n.4587_4591del
ENST00000681454.1:c.*5718_*5722del	ENSP00000505763.1:n.*5718_*5722del
ENST00000277541.6:c.6482_6486del	ENSP00000277541.6:p.Pro2161GlnfsTer?
NM_017617.3:c.6482_6486del	NP_060087.3:p.Pro2161GlnfsTer?
XM_011518717.1:c.5783_5787del	XP_011517019.1:p.Pro1928GlnfsTer?
NM_017617.5:c.6482_6486del MANE Select	NP_060087.3:p.Pro2161GlnfsTer?
XM_011518717.2:c.5759_5763del	XP_011517019.2:p.Pro1920GlnfsTer?