Canonical Allele Identifier: CA634454795
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1198358202
gnomAD v2: 20-10637012-TAAAAG-T
gnomAD v4: 20-10656364-TAAAAG-T
MyVariant Identifiers: chr20:g.10637013_10637017del (hg19) chr20:g.10656365_10656369del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656368_10656372del , CM000682.2:g.10656368_10656372del GRCh38
NC_000020.10:g.10637016_10637020del , CM000682.1:g.10637016_10637020del GRCh37
NC_000020.9:g.10585016_10585020del NCBI36
NG_007496.1:g.22678_22682del

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.755+29_755+33del MANE Select ENSP00000254958.4:n.755+29_755+33del
ENST00000254958.9:c.755+29_755+33del ENSP00000254958.4:n.755+29_755+33del
ENST00000423891.6:n.621+29_621+33del
NM_000214.2:c.755+29_755+33del NP_000205.1:n.755+29_755+33del
NM_000214.3:c.755+29_755+33del MANE Select NP_000205.1:n.755+29_755+33del
Search 100 bp 5'
Search 100 bp 3'