Canonical Allele Identifier: CA2632531496

Gene: TUFM

Linked Data

• gnomAD v4: 16-28845566-A-AACCTCCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845567_28845568insCCTCCTCCA , CM000678.2:g.28845567_28845568insCCTCCTCCA	GRCh38
NC_000016.9:g.28856888_28856889insCCTCCTCCA , CM000678.1:g.28856888_28856889insCCTCCTCCA	GRCh37
NC_000016.8:g.28764389_28764390insCCTCCTCCA	NCBI36
NG_008964.1:g.5842_5843insGGAGGAGGT
NG_029706.2:g.3968_3969insCCTCCTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-87_248-86insGGAGGAGGT MANE Select	ENSP00000322439.3:n.248-87_248-86insGGAGGAGGT
ENST00000313511.7:c.248-87_248-86insGGAGGAGGT	ENSP00000322439.3:n.248-87_248-86insGGAGGAGGT
ENST00000565012.1:c.247+345_247+346insGGAGGAGGT	ENSP00000455007.1:n.247+345_247+346insGGAGGAGGT
NM_003321.4:c.248-87_248-86insGGAGGAGGT	NP_003312.3:n.248-87_248-86insGGAGGAGGT
XM_011545928.1:c.248-87_248-86insGGAGGAGGT	XP_011544230.1:n.248-87_248-86insGGAGGAGGT
NM_001365360.1:c.248-87_248-86insGGAGGAGGT	NP_001352289.1:n.248-87_248-86insGGAGGAGGT
NM_003321.5:c.248-87_248-86insGGAGGAGGT MANE Select	NP_003312.3:n.248-87_248-86insGGAGGAGGT
NM_001365360.2:c.248-87_248-86insGGAGGAGGT	NP_001352289.1:n.248-87_248-86insGGAGGAGGT