Canonical Allele Identifier: CA531314715

Gene: NBAS

Linked Data

• gnomAD v2: 2-15359045-A-AGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG
• MyVariant Identifiers: chr2:g.15359045_15359046insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG (hg19) ; chr2:g.15218921_15218922insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218921_15218922insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG , CM000664.2:g.15218921_15218922insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG	GRCh38
NC_000002.11:g.15359045_15359046insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG , CM000664.1:g.15359045_15359046insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG	GRCh37
NC_000002.10:g.15276496_15276497insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG	NCBI36
NG_032964.1:g.347427_347428insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4269_4270insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
ENST00000700062.1:c.4426+13500_4426+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
ENST00000700063.1:c.794_795insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
ENST00000700064.1:c.2139_2140insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
ENST00000281513.10:c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC MANE Select	ENSP00000281513.5:p.Phe2095SerfsTer41
ENST00000281513.9:c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	ENSP00000281513.5:p.Phe2095SerfsTer41
ENST00000417461.5:c.512+13500_512+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	ENSP00000392421.1:n.512+13500_512+13501insCAAGACCAGCCTGGCACCT...
ENST00000442506.5:c.3426_3427insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
NM_015909.3:c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	NP_056993.2:p.Phe2095SerfsTer41
NR_052013.2:n.6280+13500_6280+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
XM_011510357.1:c.6154_6155insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508659.1:p.Phe2052SerfsTer41
XM_011510358.1:c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508660.1:p.Phe2095SerfsTer41
XM_011510359.1:c.5644_5645insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508661.1:p.Phe1882SerfsTer41
XM_011510360.1:c.4084_4085insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508662.1:p.Phe1362SerfsTer41
XM_011510361.1:c.4075_4076insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508663.1:p.Phe1359SerfsTer41
XM_011510357.2:c.6154_6155insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508659.1:p.Phe2052SerfsTer41
XM_011510358.2:c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508660.1:p.Phe2095SerfsTer41
XM_011510360.2:c.4084_4085insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508662.1:p.Phe1362SerfsTer41
XM_011510361.2:c.4075_4076insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_011508663.1:p.Phe1359SerfsTer41
XM_017004317.1:c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_016859806.1:p.Phe2095SerfsTer41
XM_024452961.1:c.5644_5645insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC	XP_024308729.1:p.Phe1882SerfsTer41
NM_015909.4:c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC MANE Select	NP_056993.2:p.Phe2095SerfsTer41
NR_052013.3:n.6266+13500_6266+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC