Canonical Allele Identifier: CA2735699723

Gene: EPS15L1

Linked Data

• dbSNP Id: rs2144612725

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16356943_16356970del , CM000681.2:g.16356943_16356970del	GRCh38
NC_000019.9:g.16467754_16467781del , CM000681.1:g.16467754_16467781del	GRCh37
NC_000019.8:g.16328754_16328781del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000455140.7:c.2587-1111_2587-1084del MANE Select	ENSP00000393313.1:n.2587-1111_2587-1084del
ENST00000455140.6:c.2587-1111_2587-1084del	ENSP00000393313.1:n.2587-1111_2587-1084del
ENST00000594851.5:c.69-1111_69-1084del
ENST00000602022.5:c.*189-1111_*189-1084del	ENSP00000471981.1:n.*189-1111_*189-1084del
NM_001258374.1:c.2587-1111_2587-1084del	NP_001245303.1:n.2587-1111_2587-1084del
NR_047665.1:n.2521-1111_2521-1084del
XM_017027086.2:c.2635-1111_2635-1084del	XP_016882575.1:n.2635-1111_2635-1084del
XM_017027087.2:c.2698_2725del	XP_016882576.1:p.Leu900ThrfsTer?
XM_017027088.2:c.2591_2618del	XP_016882577.1:p.Ala864AspfsTer8
XM_017027089.2:c.2528-1111_2528-1084del	XP_016882578.1:n.2528-1111_2528-1084del
XM_017027090.2:c.2248-1111_2248-1084del	XP_016882579.1:n.2248-1111_2248-1084del
XM_017027091.2:c.2381-1111_2381-1084del	XP_016882580.1:n.2381-1111_2381-1084del
NM_001258374.2:c.2587-1111_2587-1084del	NP_001245303.1:n.2587-1111_2587-1084del
NM_001258374.3:c.2587-1111_2587-1084del MANE Select	NP_001245303.1:n.2587-1111_2587-1084del
NR_047665.2:n.2479-1111_2479-1084del