Canonical Allele Identifier: CA2632531686

Gene: TUFM

Linked Data

• gnomAD v4: 16-28845820-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845825_28845827del , CM000678.2:g.28845825_28845827del	GRCh38
NC_000016.9:g.28857146_28857148del , CM000678.1:g.28857146_28857148del	GRCh37
NC_000016.8:g.28764647_28764649del	NCBI36
NG_008964.1:g.5586_5588del
NG_029706.2:g.4226_4228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+89_247+91del MANE Select	ENSP00000322439.3:n.247+89_247+91del
ENST00000313511.7:c.247+89_247+91del	ENSP00000322439.3:n.247+89_247+91del
ENST00000565012.1:c.247+89_247+91del	ENSP00000455007.1:n.247+89_247+91del
NM_003321.4:c.247+89_247+91del	NP_003312.3:n.247+89_247+91del
XM_011545928.1:c.247+89_247+91del	XP_011544230.1:n.247+89_247+91del
NM_001365360.1:c.247+89_247+91del	NP_001352289.1:n.247+89_247+91del
NM_003321.5:c.247+89_247+91del MANE Select	NP_003312.3:n.247+89_247+91del
NM_001365360.2:c.247+89_247+91del	NP_001352289.1:n.247+89_247+91del