Canonical Allele Identifier: CA1536338

Gene: NBAS

Linked Data

• dbSNP Id: rs774758354
• ExAC: 2:15564517 CCTGAACCTTAGTAACTCAGG / C
• gnomAD v2: 2-15564517-CCTGAACCTTAGTAACTCAGG-C
• gnomAD v4: 2-15424393-CCTGAACCTTAGTAACTCAGG-C
• MyVariant Identifiers: chr2:g.15564518_15564537del (hg19) ; chr2:g.15424394_15424413del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424397_15424416del , CM000664.2:g.15424397_15424416del	GRCh38
NC_000002.11:g.15564521_15564540del , CM000664.1:g.15564521_15564540del	GRCh37
NC_000002.10:g.15481972_15481991del	NCBI36
NG_032964.1:g.141936_141955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.576_595del
ENST00000700062.1:c.576_595del
ENST00000700065.1:n.2492_2511del
ENST00000700066.1:c.1996_2015del	ENSP00000514780.1:p.Pro666AspfsTer?
ENST00000281513.10:c.2479_2498del MANE Select	ENSP00000281513.5:p.Pro827AspfsTer?
ENST00000281513.9:c.2479_2498del	ENSP00000281513.5:p.Pro827AspfsTer?
NM_015909.3:c.2479_2498del	NP_056993.2:p.Pro827AspfsTer?
NR_052013.2:n.2523_2542del
XM_011510357.1:c.2350_2369del	XP_011508659.1:p.Pro784AspfsTer?
XM_011510358.1:c.2479_2498del	XP_011508660.1:p.Pro827AspfsTer?
XM_011510359.1:c.1840_1859del	XP_011508661.1:p.Pro614AspfsTer?
XM_011510360.1:c.280_299del	XP_011508662.1:p.Pro94AspfsTer?
XM_011510361.1:c.271_290del	XP_011508663.1:p.Pro91AspfsTer?
XM_011510357.2:c.2350_2369del	XP_011508659.1:p.Pro784AspfsTer?
XM_011510358.2:c.2479_2498del	XP_011508660.1:p.Pro827AspfsTer?
XM_011510360.2:c.280_299del	XP_011508662.1:p.Pro94AspfsTer?
XM_011510361.2:c.271_290del	XP_011508663.1:p.Pro91AspfsTer?
XM_017004317.1:c.2479_2498del	XP_016859806.1:p.Pro827AspfsTer?
XM_024452961.1:c.1840_1859del	XP_024308729.1:p.Pro614AspfsTer?
NM_015909.4:c.2479_2498del MANE Select	NP_056993.2:p.Pro827AspfsTer?
NR_052013.3:n.2509_2528del