Canonical Allele Identifier: CA2663615579

Gene: ECEL1

Linked Data

• gnomAD v4: 2-232484384-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232484385del , CM000664.2:g.232484385del	GRCh38
NC_000002.11:g.233349095del , CM000664.1:g.233349095del	GRCh37
NC_000002.10:g.233057339del	NCBI36
NG_034065.1:g.8475del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304546.6:c.1184+87del MANE Select	ENSP00000302051.1:n.1184+87del
ENST00000304546.5:c.1184+87del	ENSP00000302051.1:n.1184+87del
ENST00000409941.1:c.1184+87del	ENSP00000386333.1:n.1184+87del
ENST00000482346.1:n.1495+87del
NM_001290787.1:c.1184+87del	NP_001277716.1:n.1184+87del
NM_004826.3:c.1184+87del	NP_004817.2:n.1184+87del
NM_004826.4:c.1184+87del MANE Select	NP_004817.2:n.1184+87del
NM_001290787.2:c.1184+87del	NP_001277716.1:n.1184+87del