Canonical Allele Identifier: CA2580616745

Gene: ECEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232481847_232481848del , CM000664.2:g.232481847_232481848del	GRCh38
NC_000002.11:g.233346557_233346558del , CM000664.1:g.233346557_233346558del	GRCh37
NC_000002.10:g.233054801_233054802del	NCBI36
NG_034065.1:g.11016_11017del

Transcript Alleles

HGVS	Amino-acid Change
NM_004826.4:c.1802_1803del MANE Select	NP_004817.2:p.Leu601GlnfsTer12
ENST00000304546.6:c.1802_1803del MANE Select	ENSP00000302051.1:p.Leu601GlnfsTer12
NM_001290787.1:c.1796_1797del	NP_001277716.1:p.Leu599GlnfsTer12
NM_001290787.2:c.1796_1797del	NP_001277716.1:p.Leu599GlnfsTer12
NM_004826.3:c.1802_1803del	NP_004817.2:p.Leu601GlnfsTer12
ENST00000304546.5:c.1802_1803del	ENSP00000302051.1:p.Leu601GlnfsTer12
ENST00000409941.1:c.1796_1797del	ENSP00000386333.1:p.Leu599GlnfsTer12
ENST00000411860.5:c.47_48del	ENSP00000412683.1:p.Leu16GlnfsTer12
ENST00000482346.1:n.2113_2114del