Canonical Allele Identifier: CA2663615586

Gene: ECEL1

Linked Data

• gnomAD v4: 2-232484399-A-ATTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232484399_232484400insTTTCT , CM000664.2:g.232484399_232484400insTTTCT	GRCh38
NC_000002.11:g.233349109_233349110insTTTCT , CM000664.1:g.233349109_233349110insTTTCT	GRCh37
NC_000002.10:g.233057353_233057354insTTTCT	NCBI36
NG_034065.1:g.8460_8461insAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304546.6:c.1184+72_1184+73insAGAAA MANE Select	ENSP00000302051.1:n.1184+72_1184+73insAGAAA
ENST00000304546.5:c.1184+72_1184+73insAGAAA	ENSP00000302051.1:n.1184+72_1184+73insAGAAA
ENST00000409941.1:c.1184+72_1184+73insAGAAA	ENSP00000386333.1:n.1184+72_1184+73insAGAAA
ENST00000482346.1:n.1495+72_1495+73insAGAAA
NM_001290787.1:c.1184+72_1184+73insAGAAA	NP_001277716.1:n.1184+72_1184+73insAGAAA
NM_004826.3:c.1184+72_1184+73insAGAAA	NP_004817.2:n.1184+72_1184+73insAGAAA
NM_004826.4:c.1184+72_1184+73insAGAAA MANE Select	NP_004817.2:n.1184+72_1184+73insAGAAA
NM_001290787.2:c.1184+72_1184+73insAGAAA	NP_001277716.1:n.1184+72_1184+73insAGAAA