Canonical Allele Identifier: CA2721108931

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337584

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505042_136505043insCACAATTGGACTCTT , CM000671.2:g.136505042_136505043insCACAATTGGACTCTT	GRCh38
NC_000009.11:g.139399494_139399495insCACAATTGGACTCTT , CM000671.1:g.139399494_139399495insCACAATTGGACTCTT	GRCh37
NC_000009.10:g.138519315_138519316insCACAATTGGACTCTT	NCBI36
NG_007458.1:g.45745_45746insAGAGTCCAATTGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2456_2457insAGAGTCCAATTGTGA
ENST00000651671.1:c.4649_4650insAGAGTCCAATTGTGA MANE Select	ENSP00000498587.1:p.Asn1550delinsLysGluSerAsnCysAsp
ENST00000679595.1:c.4649_4650insAGAGTCCAATTGTGA	ENSP00000506241.1:p.Asn1550delinsLysGluSerAsnCysAsp
ENST00000680133.1:c.4535_4536insAGAGTCCAATTGTGA	ENSP00000505319.1:p.Asn1512delinsLysGluSerAsnCysAsp
ENST00000680218.1:c.4529_4530insAGAGTCCAATTGTGA	ENSP00000505339.1:p.Asn1510delinsLysGluSerAsnCysAsp
ENST00000680668.1:c.4535_4536insAGAGTCCAATTGTGA	ENSP00000506336.1:p.Asn1512delinsLysGluSerAsnCysAsp
ENST00000680778.1:c.2246_2247insAGAGTCCAATTGTGA	ENSP00000506033.1:p.Asn749delinsLysGluSerAsnCysAsp
ENST00000680924.1:c.*2049_*2050insAGAGTCCAATTGTGA	ENSP00000506031.1:n.*2049_*2050insAGAGTCCAATTGTGA
ENST00000681135.1:c.*2258_*2259insAGAGTCCAATTGTGA	ENSP00000506636.1:n.*2258_*2259insAGAGTCCAATTGTGA
ENST00000681298.1:n.1462_1463insAGAGTCCAATTGTGA
ENST00000681454.1:c.*3885_*3886insAGAGTCCAATTGTGA	ENSP00000505763.1:n.*3885_*3886insAGAGTCCAATTGTGA
ENST00000277541.6:c.4649_4650insAGAGTCCAATTGTGA	ENSP00000277541.6:p.Asn1550delinsLysGluSerAsnCysAsp
NM_017617.3:c.4649_4650insAGAGTCCAATTGTGA	NP_060087.3:p.Asn1550delinsLysGluSerAsnCysAsp
XM_011518717.1:c.3950_3951insAGAGTCCAATTGTGA	XP_011517019.1:p.Asn1317delinsLysGluSerAsnCysAsp
NM_017617.5:c.4649_4650insAGAGTCCAATTGTGA MANE Select	NP_060087.3:p.Asn1550delinsLysGluSerAsnCysAsp
XM_011518717.2:c.3926_3927insAGAGTCCAATTGTGA	XP_011517019.2:p.Asn1309delinsLysGluSerAsnCysAsp