Canonical Allele Identifier: CA2806422025

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845057_28845058insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG , CM000678.2:g.28845057_28845058insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG	GRCh38
NC_000016.9:g.28856378_28856379insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG , CM000678.1:g.28856378_28856379insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG	GRCh37
NC_000016.8:g.28763879_28763880insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG	NCBI36
NG_008964.1:g.6351_6352insCACACAGACTGCCCGGGTCATGCAGATTATGTTA
NG_029706.2:g.3458_3459insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA MANE Select	ENSP00000322439.3:n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGAT...
ENST00000313511.7:c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA	ENSP00000322439.3:n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGAT...
ENST00000565012.1:c.248-3_248-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA	ENSP00000455007.1:n.248-3_248-2insCACACAGACTGCCCGGGTCATGCAGAT...
NM_003321.4:c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA	NP_003312.3:n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTT...
XM_011545928.1:c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA	XP_011544230.1:n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTAT...
NM_001365360.1:c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA	NP_001352289.1:n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTAT...
NM_003321.5:c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA MANE Select	NP_003312.3:n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTT...
NM_001365360.2:c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA	NP_001352289.1:n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTAT...