Canonical Allele Identifier: CA993904962
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v3: 19-15187495-CTT-C
gnomAD v4: 19-15187495-CTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187496_15187497del , CM000681.2:g.15187496_15187497del GRCh38
NC_000019.9:g.15298307_15298308del , CM000681.1:g.15298307_15298308del GRCh37
NC_000019.8:g.15159307_15159308del NCBI36
NG_009819.1:g.18485_18486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1607-159_1607-158del MANE Select ENSP00000263388.1:n.1607-159_1607-158del
ENST00000263388.6:c.1607-159_1607-158del ENSP00000263388.1:n.1607-159_1607-158del
ENST00000601011.1:c.1604-159_1604-158del ENSP00000473138.1:n.1604-159_1604-158del
NM_000435.2:c.1607-159_1607-158del NP_000426.2:n.1607-159_1607-158del
XM_005259924.3:c.1607-159_1607-158del XP_005259981.1:n.1607-159_1607-158del
XM_005259924.4:c.1607-159_1607-158del XP_005259981.1:n.1607-159_1607-158del
NM_000435.3:c.1607-159_1607-158del MANE Select NP_000426.2:n.1607-159_1607-158del
Search 100 bp 5'
Search 100 bp 3'