Canonical Allele Identifier: CA218895451

Gene: NELL1

Linked Data

• dbSNP Id: rs200853377
• gnomAD v2: 11-20804921-CTGG-C
• gnomAD v3: 11-20783375-CTGG-C
• gnomAD v4: 11-20783375-CTGG-C
• MyVariant Identifiers: chr11:g.20804922_20804924del (hg19) ; chr11:g.20783376_20783378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783376_20783378del , CM000673.2:g.20783376_20783378del	GRCh38
NC_000011.9:g.20804922_20804924del , CM000673.1:g.20804922_20804924del	GRCh37
NC_000011.8:g.20761498_20761500del	NCBI36
NG_047064.1:g.118826_118828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.185-304_185-302del MANE Select	ENSP00000349654.5:n.185-304_185-302del
ENST00000298925.9:c.269-304_269-302del	ENSP00000298925.5:n.269-304_269-302del
ENST00000325319.9:c.185-304_185-302del	ENSP00000317837.5:n.185-304_185-302del
ENST00000357134.9:c.185-304_185-302del	ENSP00000349654.5:n.185-304_185-302del
ENST00000527873.5:n.206-304_206-302del
ENST00000528046.5:n.368-304_368-302del
ENST00000529595.1:n.73-304_73-302del
ENST00000532434.5:c.185-304_185-302del	ENSP00000437170.1:n.185-304_185-302del
ENST00000619031.4:c.-528-304_-528-302del	ENSP00000479479.1:n.-528-304_-528-302del
NM_001288713.1:c.269-304_269-302del	NP_001275642.1:n.269-304_269-302del
NM_001288714.1:c.185-304_185-302del	NP_001275643.1:n.185-304_185-302del
NM_006157.4:c.185-304_185-302del	NP_006148.2:n.185-304_185-302del
NM_201551.2:c.185-304_185-302del	NP_963845.1:n.185-304_185-302del
NM_006157.5:c.185-304_185-302del MANE Select	NP_006148.2:n.185-304_185-302del