Canonical Allele Identifier: CA230377046

Gene: NRGN

Linked Data

• dbSNP Id: rs927927255
• gnomAD v2: 11-124612176-CCTT-C
• gnomAD v3: 11-124742280-CCTT-C
• gnomAD v4: 11-124742280-CCTT-C
• MyVariant Identifiers: chr11:g.124612177_124612179del (hg19) ; chr11:g.124742281_124742283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124742285_124742287del , CM000673.2:g.124742285_124742287del	GRCh38
NC_000011.9:g.124612181_124612183del , CM000673.1:g.124612181_124612183del	GRCh37
NC_000011.8:g.124117391_124117393del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000284292.11:c.15+2186_15+2188del MANE Select	ENSP00000284292.5:n.15+2186_15+2188del
ENST00000284292.10:c.15+2186_15+2188del	ENSP00000284292.5:n.15+2186_15+2188del
ENST00000412681.2:c.15+2186_15+2188del	ENSP00000399591.1:n.15+2186_15+2188del
NM_001126181.1:c.15+2186_15+2188del	NP_001119653.1:n.15+2186_15+2188del
NM_006176.2:c.15+2186_15+2188del	NP_006167.1:n.15+2186_15+2188del
XR_429013.2:n.2300_2302del
XR_948129.1:n.1788_1790del
XR_948130.1:n.1321_1323del
XR_948131.1:n.2117_2119del
NM_006176.3:c.15+2186_15+2188del MANE Select	NP_006167.1:n.15+2186_15+2188del
NM_001126181.2:c.15+2186_15+2188del	NP_001119653.1:n.15+2186_15+2188del