Canonical Allele Identifier: CA719724908

Gene: TUFM

Linked Data

• dbSNP Id: rs1299486431
• gnomAD v3: 16-28845694-TC-T
• gnomAD v4: 16-28845694-TC-T
• MyVariant Identifiers: chr16:g.28857016del (hg19) ; chr16:g.28845695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845698del , CM000678.2:g.28845698del	GRCh38
NC_000016.9:g.28857019del , CM000678.1:g.28857019del	GRCh37
NC_000016.8:g.28764520del	NCBI36
NG_008964.1:g.5714del
NG_029706.2:g.4099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-215del MANE Select	ENSP00000322439.3:n.248-215del
ENST00000313511.7:c.248-215del	ENSP00000322439.3:n.248-215del
ENST00000565012.1:c.247+217del	ENSP00000455007.1:n.247+217del
NM_003321.4:c.248-215del	NP_003312.3:n.248-215del
XM_011545928.1:c.248-215del	XP_011544230.1:n.248-215del
NM_001365360.1:c.248-215del	NP_001352289.1:n.248-215del
NM_003321.5:c.248-215del MANE Select	NP_003312.3:n.248-215del
NM_001365360.2:c.248-215del	NP_001352289.1:n.248-215del