Canonical Allele Identifier: CA538928165

Gene: NDUFB3

Linked Data

• gnomAD v2: 2-201943717-G-GGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA
• gnomAD v4: 2-201078994-G-GGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA
• MyVariant Identifiers: chr2:g.201943717_201943718insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA (hg19) ; chr2:g.201078994_201078995insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201078994_201078995insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA , CM000664.2:g.201078994_201078995insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	GRCh38
NC_000002.11:g.201943717_201943718insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA , CM000664.1:g.201943717_201943718insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	GRCh37
NC_000002.10:g.201651962_201651963insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	NCBI36
NG_032156.1:g.12256_12257insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000401834.2:p.Ala38GlyfsTer21
ENST00000682325.1:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000507925.1:p.Ala38GlyfsTer21
ENST00000684175.1:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000508132.1:p.Ala38GlyfsTer21
ENST00000684420.1:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000508208.1:p.Ala38GlyfsTer21
ENST00000237889.9:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA MANE Select	ENSP00000237889.4:p.Ala38GlyfsTer21
ENST00000237889.8:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000237889.4:p.Ala38GlyfsTer21
ENST00000433898.5:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000410600.1:p.Ala38GlyfsTer21
ENST00000450023.5:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000401834.1:p.Ala38GlyfsTer21
ENST00000454214.1:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	ENSP00000407336.1:p.Ala38GlyfsTer21
NM_001257102.1:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	NP_001244031.1:p.Ala38GlyfsTer21
NM_002491.2:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	NP_002482.1:p.Ala38GlyfsTer21
XM_011511230.1:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	XP_011509532.1:p.Ala38GlyfsTer21
XM_011511230.3:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	XP_011509532.1:p.Ala38GlyfsTer21
XM_017004186.2:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	XP_016859675.1:p.Ala38GlyfsTer21
NM_002491.3:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA MANE Select	NP_002482.1:p.Ala38GlyfsTer21
NM_001257102.2:c.112_113insGGATTACAGGCATGAGCCACCGTGCCCAGCCAAGATCTCCAACCTGTAAAAAATTGTTTTAGCTATTCTAGGTCCTTTGCTTTTACATATAAA	NP_001244031.1:p.Ala38GlyfsTer21