Canonical Allele Identifier: CA2581974333
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v3: 19-15187469-A-AGGGGG
gnomAD v4: 19-15187469-A-AGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187471_15187472insGGGGG , CM000681.2:g.15187471_15187472insGGGGG GRCh38
NC_000019.9:g.15298282_15298283insGGGGG , CM000681.1:g.15298282_15298283insGGGGG GRCh37
NC_000019.8:g.15159282_15159283insGGGGG NCBI36
NG_009819.1:g.18512_18513insCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-132_1607-131insCCCCC MANE Select ENSP00000263388.1:n.1607-132_1607-131insCCCCC
ENST00000263388.6:c.1607-132_1607-131insCCCCC ENSP00000263388.1:n.1607-132_1607-131insCCCCC
ENST00000601011.1:c.1604-132_1604-131insCCCCC ENSP00000473138.1:n.1604-132_1604-131insCCCCC
NM_000435.2:c.1607-132_1607-131insCCCCC NP_000426.2:n.1607-132_1607-131insCCCCC
XM_005259924.3:c.1607-132_1607-131insCCCCC XP_005259981.1:n.1607-132_1607-131insCCCCC
XM_005259924.4:c.1607-132_1607-131insCCCCC XP_005259981.1:n.1607-132_1607-131insCCCCC
NM_000435.3:c.1607-132_1607-131insCCCCC MANE Select NP_000426.2:n.1607-132_1607-131insCCCCC
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