Canonical Allele Identifier: CA311344440
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs528934131
gnomAD v2: 20-10624715-G-GA
gnomAD v3: 20-10644067-G-GA
gnomAD v4: 20-10644067-G-GA
MyVariant Identifiers: chr20:g.10624715_10624716insA (hg19) chr20:g.10644067_10644068insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644068dup , CM000682.2:g.10644068dup GRCh38
NC_000020.10:g.10624716dup , CM000682.1:g.10624716dup GRCh37
NC_000020.9:g.10572716dup NCBI36
NG_007496.1:g.34979dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-205dup MANE Select ENSP00000254958.4:n.2373-205dup
ENST00000617965.2:n.2962-205dup
ENST00000254958.9:c.2373-205dup ENSP00000254958.4:n.2373-205dup
ENST00000423891.6:n.2239-205dup
NM_000214.2:c.2373-205dup NP_000205.1:n.2373-205dup
NM_000214.3:c.2373-205dup MANE Select NP_000205.1:n.2373-205dup
Search 100 bp 5'
Search 100 bp 3'