Canonical Allele Identifier: CA2612834597

Gene: NELL1

Linked Data

• gnomAD v4: 11-20783872-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783872A>C , CM000673.2:g.20783872A>C	GRCh38
NC_000011.9:g.20805418A>C , CM000673.1:g.20805418A>C	GRCh37
NC_000011.8:g.20761994A>C	NCBI36
NG_047064.1:g.119322A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.335+42A>C MANE Select	ENSP00000349654.5:n.335+42A>C
ENST00000298925.9:c.419+42A>C	ENSP00000298925.5:n.419+42A>C
ENST00000325319.9:c.335+42A>C	ENSP00000317837.5:n.335+42A>C
ENST00000357134.9:c.335+42A>C	ENSP00000349654.5:n.335+42A>C
ENST00000524738.1:n.162+42A>C
ENST00000527873.5:n.356+42A>C
ENST00000528046.5:n.518+42A>C
ENST00000529595.1:n.223+42A>C
ENST00000532434.5:c.335+42A>C	ENSP00000437170.1:n.335+42A>C
ENST00000619031.4:c.-378+42A>C	ENSP00000479479.1:n.-378+42A>C
NM_001288713.1:c.419+42A>C	NP_001275642.1:n.419+42A>C
NM_001288714.1:c.335+42A>C	NP_001275643.1:n.335+42A>C
NM_006157.4:c.335+42A>C	NP_006148.2:n.335+42A>C
NM_201551.2:c.335+42A>C	NP_963845.1:n.335+42A>C
NM_006157.5:c.335+42A>C MANE Select	NP_006148.2:n.335+42A>C