Canonical Allele Identifier: CA10611645

Gene: NEXN NEXN-AS1

Linked Data

• ClinVar Variation Id: 298084
• ClinVar RCV Id: RCV000272577 ; RCV000364861
• dbSNP Id: rs528439602
• gnomAD v2: 1-78354283-A-ACGG
• gnomAD v3: 1-77888598-A-ACGG
• gnomAD v4: 1-77888598-A-ACGG
• MyVariant Identifiers: chr1:g.78354300_78354302dupGGC (hg19) ; chr1:g.78354286_78354287insCGG (hg19) ; chr1:g.78354283_78354284insCGG (hg19) ; chr1:g.77888615_77888617dupGGC (hg38) ; chr1:g.77888601_77888602insCGG (hg38) ; chr1:g.77888598_77888599insCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77888615_77888617dup , CM000663.2:g.77888615_77888617dup	GRCh38
NC_000001.10:g.78354300_78354302dup , CM000663.1:g.78354300_78354302dup	GRCh37
NC_000001.9:g.78126888_78126890dup	NCBI36
NG_016625.1:g.5101_5103dup , LRG_442:g.5101_5103dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330010.12:c.-197_-195dup (NEXN)	ENSP00000327363.8:n.-197_-195dup
ENST00000401035.7:c.-197_-195dup (NEXN)	ENSP00000383814.3:n.-197_-195dup
NM_001172309.1:c.-197_-195dup (NEXN)	NP_001165780.1:n.-197_-195dup
NM_144573.3:c.-197_-195dup , LRG_442t1:c.-197_-195dup (NEXN)	NP_653174.3:n.-197_-195dup
NR_103535.1:n.740_742dup (NEXN-AS1)
XM_005271326.2:c.-197_-195dup (NEXN)	XP_005271383.1:n.-197_-195dup
XM_005271324.5:c.-197_-195dup (NEXN)	XP_005271381.1:n.-197_-195dup
XM_005271326.4:c.-197_-195dup (NEXN)	XP_005271383.1:n.-197_-195dup