Canonical Allele Identifier: CA2215864891

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845762_28845801delinsTCTCTTGCATCTCCCAATCCACCTGTCGCACAAATTCGGG , CM000678.2:g.28845762_28845801delinsTCTCTTGCATCTCCCAATCCACCTGTCGCACAAATTCGGG	GRCh38
NC_000016.9:g.28857083_28857122delinsTCTCTTGCATCTCCCAATCCACCTGTCGCACAAATTCGGG , CM000678.1:g.28857083_28857122delinsTCTCTTGCATCTCCCAATCCACCTGTCGCACAAATTCGGG	GRCh37
NC_000016.8:g.28764584_28764623delinsTCTCTTGCATCTCCCAATCCACCTGTCGCACAAATTCGGG	NCBI36
NG_008964.1:g.5608_5647delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA
NG_029706.2:g.4163_4202delinsTCTCTTGCATCTCCCAATCCACCTGTCGCACAAATTCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA MANE Select	ENSP00000322439.3:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGT...
ENST00000313511.7:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA	ENSP00000322439.3:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGT...
ENST00000565012.1:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA	ENSP00000455007.1:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGT...
NM_003321.4:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA	NP_003312.3:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTG...
XM_011545928.1:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA	XP_011544230.1:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGA...
NM_001365360.1:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA	NP_001352289.1:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGA...
NM_003321.5:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA MANE Select	NP_003312.3:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTG...
NM_001365360.2:c.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGATTGGGAGATGCAAGAGA	NP_001352289.1:n.247+111_247+150delinsCCCGAATTTGTGCGACAGGTGGA...