Canonical Allele Identifier: CA2732136950

Gene: TUFM

Linked Data

• dbSNP Id: rs2152147660

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845480_28845481insTCTTCGTGATGGCTGCAGTCAGCGTGGTCTTC , CM000678.2:g.28845480_28845481insTCTTCGTGATGGCTGCAGTCAGCGTGGTCTTC	GRCh38
NC_000016.9:g.28856801_28856802insTCTTCGTGATGGCTGCAGTCAGCGTGGTCTTC , CM000678.1:g.28856801_28856802insTCTTCGTGATGGCTGCAGTCAGCGTGGTCTTC	GRCh37
NC_000016.8:g.28764302_28764303insTCTTCGTGATGGCTGCAGTCAGCGTGGTCTTC	NCBI36
NG_008964.1:g.5928_5929insGAAGACCACGCTGACTGCAGCCATCACGAAGA
NG_029706.2:g.3881_3882insTCTTCGTGATGGCTGCAGTCAGCGTGGTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA MANE Select	ENSP00000322439.3:n.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGA...
ENST00000313511.7:c.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA	ENSP00000322439.3:n.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGA...
ENST00000565012.1:c.248-426_248-425insGAAGACCACGCTGACTGCAGCCATCACGAAGA	ENSP00000455007.1:n.248-426_248-425insGAAGACCACGCTGACTGCAGCCA...
NM_003321.4:c.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA	NP_003312.3:n.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA
XM_011545928.1:c.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA	XP_011544230.1:n.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA...
NM_001365360.1:c.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA	NP_001352289.1:n.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA...
NM_003321.5:c.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA MANE Select	NP_003312.3:n.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA
NM_001365360.2:c.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA	NP_001352289.1:n.248-1_248insGAAGACCACGCTGACTGCAGCCATCACGAAGA...