Canonical Allele Identifier: CA2215864820

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845730_28845732delinsTCA , CM000678.2:g.28845730_28845732delinsTCA	GRCh38
NC_000016.9:g.28857051_28857053delinsTCA , CM000678.1:g.28857051_28857053delinsTCA	GRCh37
NC_000016.8:g.28764552_28764554delinsTCA	NCBI36
NG_008964.1:g.5677_5679delinsTGA
NG_029706.2:g.4131_4133delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+180_247+182delinsTGA MANE Select	ENSP00000322439.3:n.247+180_247+182delinsTGA
ENST00000313511.7:c.247+180_247+182delinsTGA	ENSP00000322439.3:n.247+180_247+182delinsTGA
ENST00000565012.1:c.247+180_247+182delinsTGA	ENSP00000455007.1:n.247+180_247+182delinsTGA
NM_003321.4:c.247+180_247+182delinsTGA	NP_003312.3:n.247+180_247+182delinsTGA
XM_011545928.1:c.247+180_247+182delinsTGA	XP_011544230.1:n.247+180_247+182delinsTGA
NM_001365360.1:c.247+180_247+182delinsTGA	NP_001352289.1:n.247+180_247+182delinsTGA
NM_003321.5:c.247+180_247+182delinsTGA MANE Select	NP_003312.3:n.247+180_247+182delinsTGA
NM_001365360.2:c.247+180_247+182delinsTGA	NP_001352289.1:n.247+180_247+182delinsTGA