Canonical Allele Identifier: CA218895523

Gene: NELL1

Linked Data

• dbSNP Id: rs376202184
• gnomAD v2: 11-20805653-AAGTT-A
• gnomAD v3: 11-20784107-AAGTT-A
• gnomAD v4: 11-20784107-AAGTT-A
• MyVariant Identifiers: chr11:g.20805654_20805657del (hg19) ; chr11:g.20784108_20784111del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20784117_20784120del , CM000673.2:g.20784117_20784120del	GRCh38
NC_000011.9:g.20805663_20805666del , CM000673.1:g.20805663_20805666del	GRCh37
NC_000011.8:g.20762239_20762242del	NCBI36
NG_047064.1:g.119567_119570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.335+287_335+290del MANE Select	ENSP00000349654.5:n.335+287_335+290del
ENST00000298925.9:c.419+287_419+290del	ENSP00000298925.5:n.419+287_419+290del
ENST00000325319.9:c.335+287_335+290del	ENSP00000317837.5:n.335+287_335+290del
ENST00000357134.9:c.335+287_335+290del	ENSP00000349654.5:n.335+287_335+290del
ENST00000524738.1:n.162+287_162+290del
ENST00000527873.5:n.356+287_356+290del
ENST00000528046.5:n.518+287_518+290del
ENST00000529595.1:n.223+287_223+290del
ENST00000532434.5:c.335+287_335+290del	ENSP00000437170.1:n.335+287_335+290del
ENST00000619031.4:c.-378+287_-378+290del	ENSP00000479479.1:n.-378+287_-378+290del
NM_001288713.1:c.419+287_419+290del	NP_001275642.1:n.419+287_419+290del
NM_001288714.1:c.335+287_335+290del	NP_001275643.1:n.335+287_335+290del
NM_006157.4:c.335+287_335+290del	NP_006148.2:n.335+287_335+290del
NM_201551.2:c.335+287_335+290del	NP_963845.1:n.335+287_335+290del
NM_006157.5:c.335+287_335+290del MANE Select	NP_006148.2:n.335+287_335+290del