Canonical Allele Identifier: CA597987249

Gene: NELL1

Linked Data

• dbSNP Id: rs1217841552
• gnomAD v2: 11-21564959-CAT-C
• gnomAD v3: 11-21543413-CAT-C
• gnomAD v4: 11-21543413-CAT-C
• MyVariant Identifiers: chr11:g.21564960_21564961del (hg19) ; chr11:g.21543414_21543415del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.21543414_21543415del , CM000673.2:g.21543414_21543415del	GRCh38
NC_000011.9:g.21564960_21564961del , CM000673.1:g.21564960_21564961del	GRCh37
NC_000011.8:g.21521536_21521537del	NCBI36
NG_047064.1:g.878864_878865del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357134.10:c.1786+8900_1786+8901del MANE Select	ENSP00000349654.5:n.1786+8900_1786+8901del
ENST00000298925.9:c.1870+8900_1870+8901del	ENSP00000298925.5:n.1870+8900_1870+8901del
ENST00000325319.9:c.1615+8900_1615+8901del	ENSP00000317837.5:n.1615+8900_1615+8901del
ENST00000357134.9:c.1786+8900_1786+8901del	ENSP00000349654.5:n.1786+8900_1786+8901del
ENST00000529218.5:n.1140+8900_1140+8901del
ENST00000532434.5:c.1646-16775_1646-16774del	ENSP00000437170.1:n.1646-16775_1646-16774del
ENST00000619031.4:c.1066+8900_1066+8901del	ENSP00000479479.1:n.1066+8900_1066+8901del
NM_001288713.1:c.1870+8900_1870+8901del	NP_001275642.1:n.1870+8900_1870+8901del
NM_001288714.1:c.1615+8900_1615+8901del	NP_001275643.1:n.1615+8900_1615+8901del
NM_006157.4:c.1786+8900_1786+8901del	NP_006148.2:n.1786+8900_1786+8901del
NM_201551.2:c.1646-16775_1646-16774del	NP_963845.1:n.1646-16775_1646-16774del
XM_011520119.1:c.829+8900_829+8901del	XP_011518421.1:n.829+8900_829+8901del
NM_006157.5:c.1786+8900_1786+8901del MANE Select	NP_006148.2:n.1786+8900_1786+8901del