Canonical Allele Identifier: CA212117

Gene: NAIP

Linked Data

• ClinVar Variation Id: 156975
• ClinVar RCV Id: RCV000161402 ; RCV000161401 ; RCV000161403
• MyVariant Identifiers: chr5:g.70305696_70307464del (hg19) ; chr5:g.71009869_71011637del (hg38)
• PubMed: PMID:25666259

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71009869_71011637del , CM000667.2:g.71009869_71011637del	GRCh38
NC_000005.9:g.70305696_70307464del , CM000667.1:g.70305696_70307464del	GRCh37
NC_000005.8:g.70341452_70343220del	NCBI36
NG_008724.1:g.18478_20246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517649.6:c.569-263_668+1406del
ENST00000194097.8:c.569-263_668+1406del
ENST00000447012.7:c.61+75_161+1406del
ENST00000503719.6:c.183-7780_183-6012del	ENSP00000424913.2:n.183-7780_183-6012del
ENST00000508426.6:c.569-263_668+1406del
ENST00000508794.6:n.117-7780_117-6012del
ENST00000517649.5:c.569-263_668+1406del
ENST00000519014.1:c.*46+75_*146+1406del
ENST00000523981.5:c.183-7780_183-6012del	ENSP00000428363.1:n.183-7780_183-6012del
NM_004536.2:c.569-263_668+1406del
NM_022892.1:c.183-7780_183-6012del	NP_075043.1:n.183-7780_183-6012del
XM_005248524.1:c.569-263_668+1406del
XM_006714626.1:c.569-263_668+1406del
XM_006714629.2:c.-124-7780_-124-6012del	XP_006714692.1:n.-124-7780_-124-6012del
XM_006714630.2:c.569-263_668+1406del
XM_011543409.1:c.569-263_668+1406del
XM_011543410.1:c.138-7780_138-6012del	XP_011541712.1:n.138-7780_138-6012del
XM_011543411.1:c.16+75_116+1406del
NM_001346870.1:c.569-263_668+1406del
NM_001346870.2:c.569-263_668+1406del
NM_004536.3:c.569-263_668+1406del
NM_022892.2:c.183-7780_183-6012del	NP_075043.1:n.183-7780_183-6012del