Canonical Allele Identifier: CA2612834452

Gene: NELL1

Linked Data

• gnomAD v4: 11-20783563-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783563T>G , CM000673.2:g.20783563T>G	GRCh38
NC_000011.9:g.20805109T>G , CM000673.1:g.20805109T>G	GRCh37
NC_000011.8:g.20761685T>G	NCBI36
NG_047064.1:g.119013T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.185-117T>G MANE Select	ENSP00000349654.5:n.185-117T>G
ENST00000298925.9:c.269-117T>G	ENSP00000298925.5:n.269-117T>G
ENST00000325319.9:c.185-117T>G	ENSP00000317837.5:n.185-117T>G
ENST00000357134.9:c.185-117T>G	ENSP00000349654.5:n.185-117T>G
ENST00000527873.5:n.206-117T>G
ENST00000528046.5:n.368-117T>G
ENST00000529595.1:n.73-117T>G
ENST00000532434.5:c.185-117T>G	ENSP00000437170.1:n.185-117T>G
ENST00000619031.4:c.-528-117T>G	ENSP00000479479.1:n.-528-117T>G
NM_001288713.1:c.269-117T>G	NP_001275642.1:n.269-117T>G
NM_001288714.1:c.185-117T>G	NP_001275643.1:n.185-117T>G
NM_006157.4:c.185-117T>G	NP_006148.2:n.185-117T>G
NM_201551.2:c.185-117T>G	NP_963845.1:n.185-117T>G
NM_006157.5:c.185-117T>G MANE Select	NP_006148.2:n.185-117T>G