Canonical Allele Identifier: CA2695228455
Gene: NOTCH3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192176_15192184del , CM000681.2:g.15192176_15192184del GRCh38
NC_000019.9:g.15302987_15302995del , CM000681.1:g.15302987_15302995del GRCh37
NC_000019.8:g.15163987_15163995del NCBI36
NG_009819.1:g.13802_13810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.459_467del MANE Select ENSP00000263388.1:p.Ser154_Arg156del
ENST00000263388.6:c.459_467del ENSP00000263388.1:p.Ser154_Arg156del
ENST00000601011.1:c.456_464del ENSP00000473138.1:p.Ser153_Arg155del
NM_000435.2:c.459_467del NP_000426.2:p.Ser154_Arg156del
XM_005259924.3:c.459_467del XP_005259981.1:p.Ser154_Arg156del
XM_005259924.4:c.459_467del XP_005259981.1:p.Ser154_Arg156del
NM_000435.3:c.459_467del MANE Select NP_000426.2:p.Ser154_Arg156del
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