Canonical Allele Identifier: CA2592893596

Gene: NELL1

Linked Data

• dbSNP Id: rs1401998414
• gnomAD v3: 11-21543542-C-T
• gnomAD v4: 11-21543542-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.21543542C>T , CM000673.2:g.21543542C>T	GRCh38
NC_000011.9:g.21565088C>T , CM000673.1:g.21565088C>T	GRCh37
NC_000011.8:g.21521664C>T	NCBI36
NG_047064.1:g.878992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.1786+9028C>T MANE Select	ENSP00000349654.5:n.1786+9028C>T
ENST00000298925.9:c.1870+9028C>T	ENSP00000298925.5:n.1870+9028C>T
ENST00000325319.9:c.1615+9028C>T	ENSP00000317837.5:n.1615+9028C>T
ENST00000357134.9:c.1786+9028C>T	ENSP00000349654.5:n.1786+9028C>T
ENST00000529218.5:n.1140+9028C>T
ENST00000532434.5:c.1646-16647C>T	ENSP00000437170.1:n.1646-16647C>T
ENST00000619031.4:c.1066+9028C>T	ENSP00000479479.1:n.1066+9028C>T
NM_001288713.1:c.1870+9028C>T	NP_001275642.1:n.1870+9028C>T
NM_001288714.1:c.1615+9028C>T	NP_001275643.1:n.1615+9028C>T
NM_006157.4:c.1786+9028C>T	NP_006148.2:n.1786+9028C>T
NM_201551.2:c.1646-16647C>T	NP_963845.1:n.1646-16647C>T
XM_011520119.1:c.829+9028C>T	XP_011518421.1:n.829+9028C>T
NM_006157.5:c.1786+9028C>T MANE Select	NP_006148.2:n.1786+9028C>T