Canonical Allele Identifier: CA783725773

Gene: EPS15L1

Linked Data

• dbSNP Id: rs1344353376
• gnomAD v3: 19-16437398-GTTAGAGAATTCCA-G
• gnomAD v4: 19-16437398-GTTAGAGAATTCCA-G
• MyVariant Identifiers: chr19:g.16548210_16548222del (hg19) ; chr19:g.16437399_16437411del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16437401_16437413del , CM000681.2:g.16437401_16437413del	GRCh38
NC_000019.9:g.16548212_16548224del , CM000681.1:g.16548212_16548224del	GRCh37
NC_000019.8:g.16409212_16409224del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455140.7:c.309+359_309+371del MANE Select	ENSP00000393313.1:n.309+359_309+371del
ENST00000248070.10:c.309+359_309+371del	ENSP00000248070.5:n.309+359_309+371del
ENST00000455140.6:c.309+359_309+371del	ENSP00000393313.1:n.309+359_309+371del
ENST00000535753.6:c.309+359_309+371del	ENSP00000440103.1:n.309+359_309+371del
ENST00000592031.5:c.*46+359_*46+371del	ENSP00000465286.2:n.*46+359_*46+371del
ENST00000593760.5:c.166-2928_166-2916del	ENSP00000472958.1:n.166-2928_166-2916del
ENST00000594975.5:c.309+359_309+371del	ENSP00000471662.1:n.309+359_309+371del
ENST00000596037.5:c.310-347_310-335del	ENSP00000472135.1:n.310-347_310-335del
ENST00000597559.5:n.339+359_339+371del
ENST00000597937.5:c.309+359_309+371del	ENSP00000472267.1:n.309+359_309+371del
ENST00000602022.5:c.309+359_309+371del	ENSP00000471981.1:n.309+359_309+371del
NM_001258374.1:c.309+359_309+371del	NP_001245303.1:n.309+359_309+371del
NM_001258375.1:c.309+359_309+371del	NP_001245304.1:n.309+359_309+371del
NM_001258376.1:c.309+359_309+371del	NP_001245305.1:n.309+359_309+371del
NM_021235.2:c.309+359_309+371del	NP_067058.1:n.309+359_309+371del
NR_047665.1:n.376+359_376+371del
NR_047666.1:n.353+359_353+371del
XM_017027086.2:c.309+359_309+371del	XP_016882575.1:n.309+359_309+371del
XM_017027087.2:c.309+359_309+371del	XP_016882576.1:n.309+359_309+371del
XM_017027088.2:c.309+359_309+371del	XP_016882577.1:n.309+359_309+371del
XM_017027089.2:c.309+359_309+371del	XP_016882578.1:n.309+359_309+371del
XM_017027090.2:c.309+359_309+371del	XP_016882579.1:n.309+359_309+371del
XM_017027091.2:c.309+359_309+371del	XP_016882580.1:n.309+359_309+371del
XM_017027092.2:c.309+359_309+371del	XP_016882581.1:n.309+359_309+371del
NM_001258374.2:c.309+359_309+371del	NP_001245303.1:n.309+359_309+371del
NM_001258374.3:c.309+359_309+371del MANE Select	NP_001245303.1:n.309+359_309+371del
NM_001258375.2:c.309+359_309+371del	NP_001245304.1:n.309+359_309+371del
NM_001258376.2:c.309+359_309+371del	NP_001245305.1:n.309+359_309+371del
NM_021235.3:c.309+359_309+371del	NP_067058.1:n.309+359_309+371del
NR_047665.2:n.334+359_334+371del