Canonical Allele Identifier: CA2632531330
Gene: TUFM HGNC NCBI

Linked Data

gnomAD v4: 16-28845387-G-GCCGCATTGATGGTGATACC
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28845391_28845409dup , CM000678.2:g.28845391_28845409dup GRCh38
NC_000016.9:g.28856712_28856730dup , CM000678.1:g.28856712_28856730dup GRCh37
NC_000016.8:g.28764213_28764231dup NCBI36
NG_008964.1:g.6003_6021dup
NG_029706.2:g.3792_3810dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000313511.8:c.322_340dup MANE Select ENSP00000322439.3:p.Ala114GlyfsTer12
ENST00000313511.7:c.322_340dup ENSP00000322439.3:p.Ala114GlyfsTer12
ENST00000565012.1:c.248-351_248-333dup ENSP00000455007.1:n.248-351_248-333dup
NM_003321.4:c.322_340dup NP_003312.3:p.Ala114GlyfsTer12
XM_011545928.1:c.322_340dup XP_011544230.1:p.Ala114GlyfsTer12
NM_001365360.1:c.322_340dup NP_001352289.1:p.Ala114GlyfsTer12
NM_003321.5:c.322_340dup MANE Select NP_003312.3:p.Ala114GlyfsTer12
NM_001365360.2:c.322_340dup NP_001352289.1:p.Ala114GlyfsTer12
Search 100 bp 5'
Search 100 bp 3'