Canonical Allele Identifier: CA2215863607

Gene: TUFM

Linked Data

• dbSNP Id: rs1961909617
• gnomAD v4: 16-28845235-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845240_28845242del , CM000678.2:g.28845240_28845242del	GRCh38
NC_000016.9:g.28856561_28856563del , CM000678.1:g.28856561_28856563del	GRCh37
NC_000016.8:g.28764062_28764064del	NCBI36
NG_008964.1:g.6171_6173del
NG_029706.2:g.3641_3643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.414+76_414+78del MANE Select	ENSP00000322439.3:n.414+76_414+78del
ENST00000313511.7:c.414+76_414+78del	ENSP00000322439.3:n.414+76_414+78del
ENST00000565012.1:c.248-183_248-181del	ENSP00000455007.1:n.248-183_248-181del
NM_003321.4:c.414+76_414+78del	NP_003312.3:n.414+76_414+78del
XM_011545928.1:c.414+76_414+78del	XP_011544230.1:n.414+76_414+78del
NM_001365360.1:c.414+76_414+78del	NP_001352289.1:n.414+76_414+78del
NM_003321.5:c.414+76_414+78del MANE Select	NP_003312.3:n.414+76_414+78del
NM_001365360.2:c.414+76_414+78del	NP_001352289.1:n.414+76_414+78del