Canonical Allele Identifier: CA645372708

Gene: ECEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.[232485078T>C;232485253_232485257delinsAGC] , CM000664.2:g.[232485078T>C;232485253_232485257delinsAGC]	GRCh38
NC_000002.11:g.[233349788T>C;233349963_233349967delinsAGC] , CM000664.1:g.[233349788T>C;233349963_233349967delinsAGC]	GRCh37
NC_000002.10:g.[233058032T>C;233058207_233058211delinsAGC]	NCBI36
NG_034065.1:g.[7603_7607delinsGCT;7782A>G]

Transcript Alleles

HGVS	Amino-acid Change
NM_004826.4:c.[797_801delinsGCT;869A>G] MANE Select	NP_004817.2:p.Asp266GlyfsTer15
ENST00000304546.6:c.[797_801delinsGCT;869A>G] MANE Select	ENSP00000302051.1:p.Asp266GlyfsTer15
NM_001290787.1:c.[797_801delinsGCT;869A>G]	NP_001277716.1:p.Asp266GlyfsTer15
NM_001290787.2:c.[797_801delinsGCT;869A>G]	NP_001277716.1:p.Asp266GlyfsTer15
NM_004826.3:c.[797_801delinsGCT;869A>G]	NP_004817.2:p.Asp266GlyfsTer15
ENST00000304546.5:c.[797_801delinsGCT;869A>G]	ENSP00000302051.1:p.Asp266GlyfsTer15
ENST00000409941.1:c.[797_801delinsGCT;869A>G]	ENSP00000386333.1:p.Asp266GlyfsTer15
ENST00000482346.1:n.[1001_1005delinsGCT;1180A>G]