Canonical Allele Identifier: CA2215864585

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845612_28845615delinsTGTG , CM000678.2:g.28845612_28845615delinsTGTG	GRCh38
NC_000016.9:g.28856933_28856936delinsTGTG , CM000678.1:g.28856933_28856936delinsTGTG	GRCh37
NC_000016.8:g.28764434_28764437delinsTGTG	NCBI36
NG_008964.1:g.5794_5797delinsCACA
NG_029706.2:g.4013_4016delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-135_248-132delinsCACA MANE Select	ENSP00000322439.3:n.248-135_248-132delinsCACA
ENST00000313511.7:c.248-135_248-132delinsCACA	ENSP00000322439.3:n.248-135_248-132delinsCACA
ENST00000565012.1:c.247+297_247+300delinsCACA	ENSP00000455007.1:n.247+297_247+300delinsCACA
NM_003321.4:c.248-135_248-132delinsCACA	NP_003312.3:n.248-135_248-132delinsCACA
XM_011545928.1:c.248-135_248-132delinsCACA	XP_011544230.1:n.248-135_248-132delinsCACA
NM_001365360.1:c.248-135_248-132delinsCACA	NP_001352289.1:n.248-135_248-132delinsCACA
NM_003321.5:c.248-135_248-132delinsCACA MANE Select	NP_003312.3:n.248-135_248-132delinsCACA
NM_001365360.2:c.248-135_248-132delinsCACA	NP_001352289.1:n.248-135_248-132delinsCACA