Canonical Allele Identifier: CA674546134

Gene: NELL1

Linked Data

• dbSNP Id: rs1388583223
• gnomAD v4: 11-20783939-GC-G
• MyVariant Identifiers: chr11:g.20805486del (hg19) ; chr11:g.20783940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783941del , CM000673.2:g.20783941del	GRCh38
NC_000011.9:g.20805487del , CM000673.1:g.20805487del	GRCh37
NC_000011.8:g.20762063del	NCBI36
NG_047064.1:g.119391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.335+111del MANE Select	ENSP00000349654.5:n.335+111del
ENST00000298925.9:c.419+111del	ENSP00000298925.5:n.419+111del
ENST00000325319.9:c.335+111del	ENSP00000317837.5:n.335+111del
ENST00000357134.9:c.335+111del	ENSP00000349654.5:n.335+111del
ENST00000524738.1:n.162+111del
ENST00000527873.5:n.356+111del
ENST00000528046.5:n.518+111del
ENST00000529595.1:n.223+111del
ENST00000532434.5:c.335+111del	ENSP00000437170.1:n.335+111del
ENST00000619031.4:c.-378+111del	ENSP00000479479.1:n.-378+111del
NM_001288713.1:c.419+111del	NP_001275642.1:n.419+111del
NM_001288714.1:c.335+111del	NP_001275643.1:n.335+111del
NM_006157.4:c.335+111del	NP_006148.2:n.335+111del
NM_201551.2:c.335+111del	NP_963845.1:n.335+111del
NM_006157.5:c.335+111del MANE Select	NP_006148.2:n.335+111del