Canonical Allele Identifier: CA2651914360

Gene: JAG1

Linked Data

• gnomAD v4: 20-10644599-AGGGGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644606_10644611del , CM000682.2:g.10644606_10644611del	GRCh38
NC_000020.10:g.10625254_10625259del , CM000682.1:g.10625254_10625259del	GRCh37
NC_000020.9:g.10573254_10573259del	NCBI36
NG_007496.1:g.34442_34447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-221_2345-216del MANE Select	ENSP00000254958.4:n.2345-221_2345-216del
ENST00000617965.2:n.2934-221_2934-216del
ENST00000254958.9:c.2345-221_2345-216del	ENSP00000254958.4:n.2345-221_2345-216del
ENST00000423891.6:n.2211-221_2211-216del
ENST00000488480.2:n.999_1004del
NM_000214.2:c.2345-221_2345-216del	NP_000205.1:n.2345-221_2345-216del
NM_000214.3:c.2345-221_2345-216del MANE Select	NP_000205.1:n.2345-221_2345-216del