Canonical Allele Identifier: CA1139661349

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 973252
• ClinVar RCV Id: RCV001249662
• dbSNP Id: rs1843055667

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504932_136504933insTG , CM000671.2:g.136504932_136504933insTG	GRCh38
NC_000009.11:g.139399384_139399385insTG , CM000671.1:g.139399384_139399385insTG	GRCh37
NC_000009.10:g.138519205_138519206insTG	NCBI36
NG_007458.1:g.45854_45855insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2565_2566insCA
ENST00000651671.1:c.4758_4759insCA MANE Select	ENSP00000498587.1:p.Asn1587GlnfsTer30
ENST00000679595.1:c.4758_4759insCA	ENSP00000506241.1:p.Asn1587GlnfsTer30
ENST00000680133.1:c.4644_4645insCA	ENSP00000505319.1:p.Asn1549GlnfsTer30
ENST00000680218.1:c.4638_4639insCA	ENSP00000505339.1:p.Asn1547GlnfsTer30
ENST00000680668.1:c.4644_4645insCA	ENSP00000506336.1:p.Asn1549GlnfsTer30
ENST00000680778.1:c.2355_2356insCA	ENSP00000506033.1:p.Asn786GlnfsTer30
ENST00000680924.1:c.*2158_*2159insCA	ENSP00000506031.1:n.*2158_*2159insCA
ENST00000681135.1:c.*2367_*2368insCA	ENSP00000506636.1:n.*2367_*2368insCA
ENST00000681298.1:n.1571_1572insCA
ENST00000681454.1:c.*3994_*3995insCA	ENSP00000505763.1:n.*3994_*3995insCA
ENST00000277541.6:c.4758_4759insCA	ENSP00000277541.6:p.Asn1587GlnfsTer30
NM_017617.3:c.4758_4759insCA	NP_060087.3:p.Asn1587GlnfsTer30
XM_011518717.1:c.4059_4060insCA	XP_011517019.1:p.Asn1354GlnfsTer30
NM_017617.5:c.4758_4759insCA MANE Select	NP_060087.3:p.Asn1587GlnfsTer30
XM_011518717.2:c.4035_4036insCA	XP_011517019.2:p.Asn1346GlnfsTer30