Canonical Allele Identifier: CA2517354309

Gene: NBAS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424145_15424152del , CM000664.2:g.15424145_15424152del	GRCh38
NC_000002.11:g.15564269_15564276del , CM000664.1:g.15564269_15564276del	GRCh37
NC_000002.10:g.15481720_15481727del	NCBI36
NG_032964.1:g.142197_142204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+163_674+170del
ENST00000700062.1:c.674+163_674+170del
ENST00000700065.1:n.2590+163_2590+170del
ENST00000700066.1:c.2094+163_2094+170del	ENSP00000514780.1:n.2094+163_2094+170del
ENST00000281513.10:c.2577+163_2577+170del MANE Select	ENSP00000281513.5:n.2577+163_2577+170del
ENST00000281513.9:c.2577+163_2577+170del	ENSP00000281513.5:n.2577+163_2577+170del
ENST00000441755.5:c.78+163_78+170del	ENSP00000396501.1:n.78+163_78+170del
ENST00000442506.5:c.80+163_80+170del
NM_015909.3:c.2577+163_2577+170del	NP_056993.2:n.2577+163_2577+170del
NR_052013.2:n.2621+163_2621+170del
XM_011510357.1:c.2448+163_2448+170del	XP_011508659.1:n.2448+163_2448+170del
XM_011510358.1:c.2577+163_2577+170del	XP_011508660.1:n.2577+163_2577+170del
XM_011510359.1:c.1938+163_1938+170del	XP_011508661.1:n.1938+163_1938+170del
XM_011510360.1:c.378+163_378+170del	XP_011508662.1:n.378+163_378+170del
XM_011510361.1:c.369+163_369+170del	XP_011508663.1:n.369+163_369+170del
XM_011510357.2:c.2448+163_2448+170del	XP_011508659.1:n.2448+163_2448+170del
XM_011510358.2:c.2577+163_2577+170del	XP_011508660.1:n.2577+163_2577+170del
XM_011510360.2:c.378+163_378+170del	XP_011508662.1:n.378+163_378+170del
XM_011510361.2:c.369+163_369+170del	XP_011508663.1:n.369+163_369+170del
XM_017004317.1:c.2577+163_2577+170del	XP_016859806.1:n.2577+163_2577+170del
XM_024452961.1:c.1938+163_1938+170del	XP_024308729.1:n.1938+163_1938+170del
NM_015909.4:c.2577+163_2577+170del MANE Select	NP_056993.2:n.2577+163_2577+170del
NR_052013.3:n.2607+163_2607+170del