Canonical Allele Identifier: CA2490889230

Gene: NBAS

Linked Data

• dbSNP Id: rs1677346893

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424175_15424176del , CM000664.2:g.15424175_15424176del	GRCh38
NC_000002.11:g.15564299_15564300del , CM000664.1:g.15564299_15564300del	GRCh37
NC_000002.10:g.15481750_15481751del	NCBI36
NG_032964.1:g.142174_142175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+140_674+141del
ENST00000700062.1:c.674+140_674+141del
ENST00000700065.1:n.2590+140_2590+141del
ENST00000700066.1:c.2094+140_2094+141del	ENSP00000514780.1:n.2094+140_2094+141del
ENST00000281513.10:c.2577+140_2577+141del MANE Select	ENSP00000281513.5:n.2577+140_2577+141del
ENST00000281513.9:c.2577+140_2577+141del	ENSP00000281513.5:n.2577+140_2577+141del
ENST00000441755.5:c.78+140_78+141del	ENSP00000396501.1:n.78+140_78+141del
ENST00000442506.5:c.80+140_80+141del
NM_015909.3:c.2577+140_2577+141del	NP_056993.2:n.2577+140_2577+141del
NR_052013.2:n.2621+140_2621+141del
XM_011510357.1:c.2448+140_2448+141del	XP_011508659.1:n.2448+140_2448+141del
XM_011510358.1:c.2577+140_2577+141del	XP_011508660.1:n.2577+140_2577+141del
XM_011510359.1:c.1938+140_1938+141del	XP_011508661.1:n.1938+140_1938+141del
XM_011510360.1:c.378+140_378+141del	XP_011508662.1:n.378+140_378+141del
XM_011510361.1:c.369+140_369+141del	XP_011508663.1:n.369+140_369+141del
XM_011510357.2:c.2448+140_2448+141del	XP_011508659.1:n.2448+140_2448+141del
XM_011510358.2:c.2577+140_2577+141del	XP_011508660.1:n.2577+140_2577+141del
XM_011510360.2:c.378+140_378+141del	XP_011508662.1:n.378+140_378+141del
XM_011510361.2:c.369+140_369+141del	XP_011508663.1:n.369+140_369+141del
XM_017004317.1:c.2577+140_2577+141del	XP_016859806.1:n.2577+140_2577+141del
XM_024452961.1:c.1938+140_1938+141del	XP_024308729.1:n.1938+140_1938+141del
NM_015909.4:c.2577+140_2577+141del MANE Select	NP_056993.2:n.2577+140_2577+141del
NR_052013.3:n.2607+140_2607+141del