Canonical Allele Identifier: CA2215864730

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845686_28845687delinsCA , CM000678.2:g.28845686_28845687delinsCA	GRCh38
NC_000016.9:g.28857007_28857008delinsCA , CM000678.1:g.28857007_28857008delinsCA	GRCh37
NC_000016.8:g.28764508_28764509delinsCA	NCBI36
NG_008964.1:g.5722_5723delinsTG
NG_029706.2:g.4087_4088delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-207_248-206delinsTG MANE Select	ENSP00000322439.3:n.248-207_248-206delinsTG
ENST00000313511.7:c.248-207_248-206delinsTG	ENSP00000322439.3:n.248-207_248-206delinsTG
ENST00000565012.1:c.247+225_247+226delinsTG	ENSP00000455007.1:n.247+225_247+226delinsTG
NM_003321.4:c.248-207_248-206delinsTG	NP_003312.3:n.248-207_248-206delinsTG
XM_011545928.1:c.248-207_248-206delinsTG	XP_011544230.1:n.248-207_248-206delinsTG
NM_001365360.1:c.248-207_248-206delinsTG	NP_001352289.1:n.248-207_248-206delinsTG
NM_003321.5:c.248-207_248-206delinsTG MANE Select	NP_003312.3:n.248-207_248-206delinsTG
NM_001365360.2:c.248-207_248-206delinsTG	NP_001352289.1:n.248-207_248-206delinsTG