Canonical Allele Identifier: CA2632531241

Gene: TUFM

Linked Data

• gnomAD v4: 16-28845255-CATTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845258_28845261del , CM000678.2:g.28845258_28845261del	GRCh38
NC_000016.9:g.28856579_28856582del , CM000678.1:g.28856579_28856582del	GRCh37
NC_000016.8:g.28764080_28764083del	NCBI36
NG_008964.1:g.6150_6153del
NG_029706.2:g.3659_3662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.414+55_414+58del MANE Select	ENSP00000322439.3:n.414+55_414+58del
ENST00000313511.7:c.414+55_414+58del	ENSP00000322439.3:n.414+55_414+58del
ENST00000565012.1:c.248-204_248-201del	ENSP00000455007.1:n.248-204_248-201del
NM_003321.4:c.414+55_414+58del	NP_003312.3:n.414+55_414+58del
XM_011545928.1:c.414+55_414+58del	XP_011544230.1:n.414+55_414+58del
NM_001365360.1:c.414+55_414+58del	NP_001352289.1:n.414+55_414+58del
NM_003321.5:c.414+55_414+58del MANE Select	NP_003312.3:n.414+55_414+58del
NM_001365360.2:c.414+55_414+58del	NP_001352289.1:n.414+55_414+58del