Canonical Allele Identifier: CA2657930726

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218886-TGCGGGGCCGCACCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218887_15218901del , CM000664.2:g.15218887_15218901del	GRCh38
NC_000002.11:g.15359011_15359025del , CM000664.1:g.15359011_15359025del	GRCh37
NC_000002.10:g.15276462_15276476del	NCBI36
NG_032964.1:g.347448_347462del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.4290_4304del
ENST00000700062.1:c.4426+13521_4426+13535del
ENST00000700063.1:c.815_829del
ENST00000700064.1:c.2160_2174del
ENST00000281513.10:c.6304_6318del MANE Select	ENSP00000281513.5:p.Pro2102_Arg2106del
ENST00000281513.9:c.6304_6318del	ENSP00000281513.5:p.Pro2102_Arg2106del
ENST00000417461.5:c.512+13521_512+13535del	ENSP00000392421.1:n.512+13521_512+13535de...
ENST00000442506.5:c.3447_3461del
NM_015909.3:c.6304_6318del	NP_056993.2:p.Pro2102_Arg2106del
NR_052013.2:n.6280+13521_6280+13535del
XM_011510357.1:c.6175_6189del	XP_011508659.1:p.Pro2059_Arg2063del
XM_011510358.1:c.6304_6318del	XP_011508660.1:p.Pro2102_Arg2106del
XM_011510359.1:c.5665_5679del	XP_011508661.1:p.Pro1889_Arg1893del
XM_011510360.1:c.4105_4119del	XP_011508662.1:p.Pro1369_Arg1373del
XM_011510361.1:c.4096_4110del	XP_011508663.1:p.Pro1366_Arg1370del
XM_011510357.2:c.6175_6189del	XP_011508659.1:p.Pro2059_Arg2063del
XM_011510358.2:c.6304_6318del	XP_011508660.1:p.Pro2102_Arg2106del
XM_011510360.2:c.4105_4119del	XP_011508662.1:p.Pro1369_Arg1373del
XM_011510361.2:c.4096_4110del	XP_011508663.1:p.Pro1366_Arg1370del
XM_017004317.1:c.6304_6318del	XP_016859806.1:p.Pro2102_Arg2106del
XM_024452961.1:c.5665_5679del	XP_024308729.1:p.Pro1889_Arg1893del
NM_015909.4:c.6304_6318del MANE Select	NP_056993.2:p.Pro2102_Arg2106del
NR_052013.3:n.6266+13521_6266+13535del