Canonical Allele Identifier: CA2325331140

Gene: EPS15L1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16356967_16356968delinsCT , CM000681.2:g.16356967_16356968delinsCT	GRCh38
NC_000019.9:g.16467778_16467779delinsCT , CM000681.1:g.16467778_16467779delinsCT	GRCh37
NC_000019.8:g.16328778_16328779delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455140.7:c.2587-1117_2587-1116delinsAG MANE Select	ENSP00000393313.1:n.2587-1117_2587-1116delinsAG
ENST00000455140.6:c.2587-1117_2587-1116delinsAG	ENSP00000393313.1:n.2587-1117_2587-1116delinsAG
ENST00000594851.5:c.69-1117_69-1116delinsAG
ENST00000602022.5:c.*189-1117_*189-1116delinsAG	ENSP00000471981.1:n.*189-1117_*189-1116delinsAG
NM_001258374.1:c.2587-1117_2587-1116delinsAG	NP_001245303.1:n.2587-1117_2587-1116delinsAG
NR_047665.1:n.2521-1117_2521-1116delinsAG
XM_017027086.2:c.2635-1117_2635-1116delinsAG	XP_016882575.1:n.2635-1117_2635-1116delinsAG
XM_017027087.2:c.2692_2693delinsAG	XP_016882576.1:p.Arg898=
XM_017027088.2:c.2585_2586delinsAG	XP_016882577.1:p.Gln862=
XM_017027089.2:c.2528-1117_2528-1116delinsAG	XP_016882578.1:n.2528-1117_2528-1116delinsAG
XM_017027090.2:c.2248-1117_2248-1116delinsAG	XP_016882579.1:n.2248-1117_2248-1116delinsAG
XM_017027091.2:c.2381-1117_2381-1116delinsAG	XP_016882580.1:n.2381-1117_2381-1116delinsAG
NM_001258374.2:c.2587-1117_2587-1116delinsAG	NP_001245303.1:n.2587-1117_2587-1116delinsAG
NM_001258374.3:c.2587-1117_2587-1116delinsAG MANE Select	NP_001245303.1:n.2587-1117_2587-1116delinsAG
NR_047665.2:n.2479-1117_2479-1116delinsAG