Canonical Allele Identifier: CA719724801

Gene: TUFM

Linked Data

• dbSNP Id: rs1175781920
• gnomAD v3: 16-28845495-GAA-G
• gnomAD v4: 16-28845495-GAA-G
• MyVariant Identifiers: chr16:g.28856817_28856818del (hg19) ; chr16:g.28845496_28845497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845496_28845497del , CM000678.2:g.28845496_28845497del	GRCh38
NC_000016.9:g.28856817_28856818del , CM000678.1:g.28856817_28856818del	GRCh37
NC_000016.8:g.28764318_28764319del	NCBI36
NG_008964.1:g.5912_5913del
NG_029706.2:g.3897_3898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-17_248-16del MANE Select	ENSP00000322439.3:n.248-17_248-16del
ENST00000313511.7:c.248-17_248-16del	ENSP00000322439.3:n.248-17_248-16del
ENST00000565012.1:c.247+415_247+416del	ENSP00000455007.1:n.247+415_247+416del
NM_003321.4:c.248-17_248-16del	NP_003312.3:n.248-17_248-16del
XM_011545928.1:c.248-17_248-16del	XP_011544230.1:n.248-17_248-16del
NM_001365360.1:c.248-17_248-16del	NP_001352289.1:n.248-17_248-16del
NM_003321.5:c.248-17_248-16del MANE Select	NP_003312.3:n.248-17_248-16del
NM_001365360.2:c.248-17_248-16del	NP_001352289.1:n.248-17_248-16del