Canonical Allele Identifier: CA2663615582

Gene: ECEL1

Linked Data

• gnomAD v4: 2-232484391-GCCCACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232484393_232484398del , CM000664.2:g.232484393_232484398del	GRCh38
NC_000002.11:g.233349103_233349108del , CM000664.1:g.233349103_233349108del	GRCh37
NC_000002.10:g.233057347_233057352del	NCBI36
NG_034065.1:g.8463_8468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304546.6:c.1184+75_1184+80del MANE Select	ENSP00000302051.1:n.1184+75_1184+80del
ENST00000304546.5:c.1184+75_1184+80del	ENSP00000302051.1:n.1184+75_1184+80del
ENST00000409941.1:c.1184+75_1184+80del	ENSP00000386333.1:n.1184+75_1184+80del
ENST00000482346.1:n.1495+75_1495+80del
NM_001290787.1:c.1184+75_1184+80del	NP_001277716.1:n.1184+75_1184+80del
NM_004826.3:c.1184+75_1184+80del	NP_004817.2:n.1184+75_1184+80del
NM_004826.4:c.1184+75_1184+80del MANE Select	NP_004817.2:n.1184+75_1184+80del
NM_001290787.2:c.1184+75_1184+80del	NP_001277716.1:n.1184+75_1184+80del