Canonical Allele Identifier: CA279239083

Gene: TUFM

Linked Data

• dbSNP Id: rs1026364414
• gnomAD v3: 16-28845770-A-ATC
• gnomAD v4: 16-28845770-A-ATC
• MyVariant Identifiers: chr16:g.28857091_28857092insTC (hg19) ; chr16:g.28845770_28845771insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845773_28845774dup , CM000678.2:g.28845773_28845774dup	GRCh38
NC_000016.9:g.28857094_28857095dup , CM000678.1:g.28857094_28857095dup	GRCh37
NC_000016.8:g.28764595_28764596dup	NCBI36
NG_008964.1:g.5637_5638dup
NG_029706.2:g.4174_4175dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+140_247+141dup MANE Select	ENSP00000322439.3:n.247+140_247+141dup
ENST00000313511.7:c.247+140_247+141dup	ENSP00000322439.3:n.247+140_247+141dup
ENST00000565012.1:c.247+140_247+141dup	ENSP00000455007.1:n.247+140_247+141dup
NM_003321.4:c.247+140_247+141dup	NP_003312.3:n.247+140_247+141dup
XM_011545928.1:c.247+140_247+141dup	XP_011544230.1:n.247+140_247+141dup
NM_001365360.1:c.247+140_247+141dup	NP_001352289.1:n.247+140_247+141dup
NM_003321.5:c.247+140_247+141dup MANE Select	NP_003312.3:n.247+140_247+141dup
NM_001365360.2:c.247+140_247+141dup	NP_001352289.1:n.247+140_247+141dup