Canonical Allele Identifier: CA622162197

Gene: TUFM

Linked Data

• dbSNP Id: rs1168265638
• gnomAD v2: 16-28857051-TCA-T
• MyVariant Identifiers: chr16:g.28857052_28857053del (hg19) ; chr16:g.28845731_28845732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845733_28845734del , CM000678.2:g.28845733_28845734del	GRCh38
NC_000016.9:g.28857054_28857055del , CM000678.1:g.28857054_28857055del	GRCh37
NC_000016.8:g.28764555_28764556del	NCBI36
NG_008964.1:g.5677_5678del
NG_029706.2:g.4134_4135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+180_247+181del MANE Select	ENSP00000322439.3:n.247+180_247+181del
ENST00000313511.7:c.247+180_247+181del	ENSP00000322439.3:n.247+180_247+181del
ENST00000565012.1:c.247+180_247+181del	ENSP00000455007.1:n.247+180_247+181del
NM_003321.4:c.247+180_247+181del	NP_003312.3:n.247+180_247+181del
XM_011545928.1:c.247+180_247+181del	XP_011544230.1:n.247+180_247+181del
NM_001365360.1:c.247+180_247+181del	NP_001352289.1:n.247+180_247+181del
NM_003321.5:c.247+180_247+181del MANE Select	NP_003312.3:n.247+180_247+181del
NM_001365360.2:c.247+180_247+181del	NP_001352289.1:n.247+180_247+181del