Canonical Allele Identifier: CA2501269320

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845075_28845076insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT , CM000678.2:g.28845075_28845076insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT	GRCh38
NC_000016.9:g.28856396_28856397insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT , CM000678.1:g.28856396_28856397insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT	GRCh37
NC_000016.8:g.28763897_28763898insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT	NCBI36
NG_008964.1:g.6333_6334insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG
NG_029706.2:g.3476_3477insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG MANE Select	ENSP00000322439.3:n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAA...
ENST00000313511.7:c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG	ENSP00000322439.3:n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAA...
ENST00000565012.1:c.248-21_248-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG	ENSP00000455007.1:n.248-21_248-20insACTCAGAGCCTGGGTAAGGATGCAA...
NM_003321.4:c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG	NP_003312.3:n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGA...
XM_011545928.1:c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG	XP_011544230.1:n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAG...
NM_001365360.1:c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG	NP_001352289.1:n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAG...
NM_003321.5:c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG MANE Select	NP_003312.3:n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGA...
NM_001365360.2:c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG	NP_001352289.1:n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAG...