Canonical Allele Identifier: CA2632531501

Gene: TUFM

Linked Data

• gnomAD v4: 16-28845569-T-TCTCTAACTATCCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845569_28845570insCTCTAACTATCCTA , CM000678.2:g.28845569_28845570insCTCTAACTATCCTA	GRCh38
NC_000016.9:g.28856890_28856891insCTCTAACTATCCTA , CM000678.1:g.28856890_28856891insCTCTAACTATCCTA	GRCh37
NC_000016.8:g.28764391_28764392insCTCTAACTATCCTA	NCBI36
NG_008964.1:g.5839_5840insTAGGATAGTTAGAG
NG_029706.2:g.3970_3971insCTCTAACTATCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.248-90_248-89insTAGGATAGTTAGAG MANE Select	ENSP00000322439.3:n.248-90_248-89insTAGGATAGTTAGAG
ENST00000313511.7:c.248-90_248-89insTAGGATAGTTAGAG	ENSP00000322439.3:n.248-90_248-89insTAGGATAGTTAGAG
ENST00000565012.1:c.247+342_247+343insTAGGATAGTTAGAG	ENSP00000455007.1:n.247+342_247+343insTAGGATAGTTAGAG
NM_003321.4:c.248-90_248-89insTAGGATAGTTAGAG	NP_003312.3:n.248-90_248-89insTAGGATAGTTAGAG
XM_011545928.1:c.248-90_248-89insTAGGATAGTTAGAG	XP_011544230.1:n.248-90_248-89insTAGGATAGTTAGAG
NM_001365360.1:c.248-90_248-89insTAGGATAGTTAGAG	NP_001352289.1:n.248-90_248-89insTAGGATAGTTAGAG
NM_003321.5:c.248-90_248-89insTAGGATAGTTAGAG MANE Select	NP_003312.3:n.248-90_248-89insTAGGATAGTTAGAG
NM_001365360.2:c.248-90_248-89insTAGGATAGTTAGAG	NP_001352289.1:n.248-90_248-89insTAGGATAGTTAGAG