Canonical Allele Identifier: CA2815263163

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10643944_10643945insAACACACCCAACACA , CM000682.2:g.10643944_10643945insAACACACCCAACACA	GRCh38
NC_000020.10:g.10624592_10624593insAACACACCCAACACA , CM000682.1:g.10624592_10624593insAACACACCCAACACA	GRCh37
NC_000020.9:g.10572592_10572593insAACACACCCAACACA	NCBI36
NG_007496.1:g.35104_35105insTGTTGGGTGTGTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2373-80_2373-79insTGTTGGGTGTGTTTG MANE Select	ENSP00000254958.4:n.2373-80_2373-79insTGTTGGGTGTGTTTG
ENST00000617965.2:n.2962-80_2962-79insTGTTGGGTGTGTTTG
ENST00000254958.9:c.2373-80_2373-79insTGTTGGGTGTGTTTG	ENSP00000254958.4:n.2373-80_2373-79insTGTTGGGTGTGTTTG
ENST00000423891.6:n.2239-80_2239-79insTGTTGGGTGTGTTTG
NM_000214.2:c.2373-80_2373-79insTGTTGGGTGTGTTTG	NP_000205.1:n.2373-80_2373-79insTGTTGGGTGTGTTTG
NM_000214.3:c.2373-80_2373-79insTGTTGGGTGTGTTTG MANE Select	NP_000205.1:n.2373-80_2373-79insTGTTGGGTGTGTTTG