Canonical Allele Identifier: CA719724332

Gene: TUFM

Linked Data

• dbSNP Id: rs1336021241
• gnomAD v3: 16-28845060-AGAG-A
• gnomAD v4: 16-28845060-AGAG-A
• MyVariant Identifiers: chr16:g.28856382_28856384del (hg19) ; chr16:g.28845061_28845063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845064_28845066del , CM000678.2:g.28845064_28845066del	GRCh38
NC_000016.9:g.28856385_28856387del , CM000678.1:g.28856385_28856387del	GRCh37
NC_000016.8:g.28763886_28763888del	NCBI36
NG_008964.1:g.6346_6348del
NG_029706.2:g.3465_3467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.415-8_415-6del MANE Select	ENSP00000322439.3:n.415-8_415-6del
ENST00000313511.7:c.415-8_415-6del	ENSP00000322439.3:n.415-8_415-6del
ENST00000565012.1:c.248-8_248-6del	ENSP00000455007.1:n.248-8_248-6del
NM_003321.4:c.415-8_415-6del	NP_003312.3:n.415-8_415-6del
XM_011545928.1:c.415-8_415-6del	XP_011544230.1:n.415-8_415-6del
NM_001365360.1:c.415-8_415-6del	NP_001352289.1:n.415-8_415-6del
NM_003321.5:c.415-8_415-6del MANE Select	NP_003312.3:n.415-8_415-6del
NM_001365360.2:c.415-8_415-6del	NP_001352289.1:n.415-8_415-6del