Canonical Allele Identifier: CA918592

Gene: NEXN

Linked Data

• ClinVar Variation Id: 1625711
• ClinVar RCV Id: RCV002109169
• dbSNP Id: rs780428399
• ExAC: 1:78383622 CATTA / C
• gnomAD v2: 1-78383622-CATTA-C
• gnomAD v3: 1-77917937-CATTA-C
• gnomAD v4: 1-77917937-CATTA-C
• MyVariant Identifiers: chr1:g.78383623_78383626del (hg19) ; chr1:g.77917939_77917942del (hg38) ; chr1:g.77917938_77917941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77917941_77917944del , CM000663.2:g.77917941_77917944del	GRCh38
NC_000001.10:g.78383626_78383629del , CM000663.1:g.78383626_78383629del	GRCh37
NC_000001.9:g.78156214_78156217del	NCBI36
NG_016625.1:g.34427_34430del , LRG_442:g.34427_34430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.220-19_220-16del MANE Select	ENSP00000333938.7:n.220-19_220-16del
ENST00000330010.12:c.28-19_28-16del	ENSP00000327363.8:n.28-19_28-16del
ENST00000334785.11:c.220-19_220-16del	ENSP00000333938.7:n.220-19_220-16del
ENST00000401035.7:c.28-19_28-16del	ENSP00000383814.3:n.28-19_28-16del
ENST00000440324.5:c.220-19_220-16del	ENSP00000411902.1:n.220-19_220-16del
NM_001172309.1:c.28-19_28-16del	NP_001165780.1:n.28-19_28-16del
NM_144573.3:c.220-19_220-16del , LRG_442t1:c.220-19_220-16del	NP_653174.3:n.220-19_220-16del
XM_005271322.2:c.220-19_220-16del	XP_005271379.1:n.220-19_220-16del
XM_005271323.2:c.220-19_220-16del	XP_005271380.1:n.220-19_220-16del
XM_005271324.3:c.28-19_28-16del	XP_005271381.1:n.28-19_28-16del
XM_005271325.2:c.220-19_220-16del	XP_005271382.1:n.220-19_220-16del
XM_005271326.2:c.28-19_28-16del	XP_005271383.1:n.28-19_28-16del
XM_005271327.2:c.220-19_220-16del	XP_005271384.1:n.220-19_220-16del
XM_005271322.4:c.220-19_220-16del	XP_005271379.1:n.220-19_220-16del
XM_005271323.4:c.220-19_220-16del	XP_005271380.1:n.220-19_220-16del
XM_005271324.5:c.28-19_28-16del	XP_005271381.1:n.28-19_28-16del
XM_005271325.4:c.220-19_220-16del	XP_005271382.1:n.220-19_220-16del
XM_005271326.4:c.28-19_28-16del	XP_005271383.1:n.28-19_28-16del
XM_005271327.4:c.220-19_220-16del	XP_005271384.1:n.220-19_220-16del
NM_001172309.2:c.28-19_28-16del	NP_001165780.1:n.28-19_28-16del
NM_144573.4:c.220-19_220-16del MANE Select	NP_653174.3:n.220-19_220-16del