Canonical Allele Identifier: CA531314708

Gene: NBAS

Linked Data

• dbSNP Id: rs1364933834
• gnomAD v2: 2-15358859-TGTTA-T
• MyVariant Identifiers: chr2:g.15358860_15358863del (hg19) ; chr2:g.15218736_15218739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218738_15218741del , CM000664.2:g.15218738_15218741del	GRCh38
NC_000002.11:g.15358862_15358865del , CM000664.1:g.15358862_15358865del	GRCh37
NC_000002.10:g.15276313_15276316del	NCBI36
NG_032964.1:g.347610_347613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4418+34_4418+37del
ENST00000700062.1:c.4426+13683_4426+13686del
ENST00000700063.1:c.943+34_943+37del
ENST00000700064.1:c.2288+34_2288+37del
ENST00000281513.10:c.6432+34_6432+37del MANE Select	ENSP00000281513.5:n.6432+34_6432+37del
ENST00000281513.9:c.6432+34_6432+37del	ENSP00000281513.5:n.6432+34_6432+37del
ENST00000417461.5:c.512+13683_512+13686del	ENSP00000392421.1:n.512+13683_512+13686del
ENST00000442506.5:c.3575+34_3575+37del
NM_015909.3:c.6432+34_6432+37del	NP_056993.2:n.6432+34_6432+37del
NR_052013.2:n.6280+13683_6280+13686del
XM_011510357.1:c.6303+34_6303+37del	XP_011508659.1:n.6303+34_6303+37del
XM_011510358.1:c.6432+34_6432+37del	XP_011508660.1:n.6432+34_6432+37del
XM_011510359.1:c.5793+34_5793+37del	XP_011508661.1:n.5793+34_5793+37del
XM_011510360.1:c.4233+34_4233+37del	XP_011508662.1:n.4233+34_4233+37del
XM_011510361.1:c.4224+34_4224+37del	XP_011508663.1:n.4224+34_4224+37del
XM_011510357.2:c.6303+34_6303+37del	XP_011508659.1:n.6303+34_6303+37del
XM_011510358.2:c.6432+34_6432+37del	XP_011508660.1:n.6432+34_6432+37del
XM_011510360.2:c.4233+34_4233+37del	XP_011508662.1:n.4233+34_4233+37del
XM_011510361.2:c.4224+34_4224+37del	XP_011508663.1:n.4224+34_4224+37del
XM_017004317.1:c.6432+34_6432+37del	XP_016859806.1:n.6432+34_6432+37del
XM_024452961.1:c.5793+34_5793+37del	XP_024308729.1:n.5793+34_5793+37del
NM_015909.4:c.6432+34_6432+37del MANE Select	NP_056993.2:n.6432+34_6432+37del
NR_052013.3:n.6266+13683_6266+13686del