Canonical Allele Identifier: CA2721099525
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs2133318568

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497295_136497296insAAGCAAGGAGGCCAAGGACCT , CM000671.2:g.136497295_136497296insAAGCAAGGAGGCCAAGGACCT GRCh38
NC_000009.11:g.139391747_139391748insAAGCAAGGAGGCCAAGGACCT , CM000671.1:g.139391747_139391748insAAGCAAGGAGGCCAAGGACCT GRCh37
NC_000009.10:g.138511568_138511569insAAGCAAGGAGGCCAAGGACCT NCBI36
NG_007458.1:g.53491_53492insAGGTCCTTGGCCTCCTTGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6443_6444insAGGTCCTTGGCCTCCTTGCTT MANE Select ENSP00000498587.1:p.Ser2148delinsArgGlyProTrpProProCysPhe
ENST00000679595.1:c.*1483_*1484insAGGTCCTTGGCCTCCTTGCTT ENSP00000506241.1:n.*1483_*1484insAGGTCCTTGGCCTCCTTGCTT
ENST00000679969.1:n.3039_3040insAGGTCCTTGGCCTCCTTGCTT
ENST00000680003.1:n.2775_2776insAGGTCCTTGGCCTCCTTGCTT
ENST00000680133.1:c.6329_6330insAGGTCCTTGGCCTCCTTGCTT ENSP00000505319.1:p.Ser2110delinsArgGlyProTrpProProCysPhe
ENST00000680218.1:c.6323_6324insAGGTCCTTGGCCTCCTTGCTT ENSP00000505339.1:p.Ser2108delinsArgGlyProTrpProProCysPhe
ENST00000680668.1:c.6329_6330insAGGTCCTTGGCCTCCTTGCTT ENSP00000506336.1:p.Ser2110delinsArgGlyProTrpProProCysPhe
ENST00000680778.1:c.4040_4041insAGGTCCTTGGCCTCCTTGCTT ENSP00000506033.1:p.Ser1347delinsArgGlyProTrpProProCysPhe
ENST00000680924.1:c.*3843_*3844insAGGTCCTTGGCCTCCTTGCTT ENSP00000506031.1:n.*3843_*3844insAGGTCCTTGGCCTCCTTGCTT
ENST00000681135.1:c.*4052_*4053insAGGTCCTTGGCCTCCTTGCTT ENSP00000506636.1:n.*4052_*4053insAGGTCCTTGGCCTCCTTGCTT
ENST00000681298.1:n.4548_4549insAGGTCCTTGGCCTCCTTGCTT
ENST00000681454.1:c.*5679_*5680insAGGTCCTTGGCCTCCTTGCTT ENSP00000505763.1:n.*5679_*5680insAGGTCCTTGGCCTCCTTGCTT
ENST00000277541.6:c.6443_6444insAGGTCCTTGGCCTCCTTGCTT ENSP00000277541.6:p.Ser2148delinsArgGlyProTrpProProCysPhe
NM_017617.3:c.6443_6444insAGGTCCTTGGCCTCCTTGCTT NP_060087.3:p.Ser2148delinsArgGlyProTrpProProCysPhe
XM_011518717.1:c.5744_5745insAGGTCCTTGGCCTCCTTGCTT XP_011517019.1:p.Ser1915delinsArgGlyProTrpProProCysPhe
NM_017617.5:c.6443_6444insAGGTCCTTGGCCTCCTTGCTT MANE Select NP_060087.3:p.Ser2148delinsArgGlyProTrpProProCysPhe
XM_011518717.2:c.5720_5721insAGGTCCTTGGCCTCCTTGCTT XP_011517019.2:p.Ser1907delinsArgGlyProTrpProProCysPhe