Canonical Allele Identifier: CA2632531605

Gene: TUFM

Linked Data

• gnomAD v4: 16-28845761-G-GTCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845763_28845767dup , CM000678.2:g.28845763_28845767dup	GRCh38
NC_000016.9:g.28857084_28857088dup , CM000678.1:g.28857084_28857088dup	GRCh37
NC_000016.8:g.28764585_28764589dup	NCBI36
NG_008964.1:g.5643_5647dup
NG_029706.2:g.4164_4168dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.247+146_247+150dup MANE Select	ENSP00000322439.3:n.247+146_247+150dup
ENST00000313511.7:c.247+146_247+150dup	ENSP00000322439.3:n.247+146_247+150dup
ENST00000565012.1:c.247+146_247+150dup	ENSP00000455007.1:n.247+146_247+150dup
NM_003321.4:c.247+146_247+150dup	NP_003312.3:n.247+146_247+150dup
XM_011545928.1:c.247+146_247+150dup	XP_011544230.1:n.247+146_247+150dup
NM_001365360.1:c.247+146_247+150dup	NP_001352289.1:n.247+146_247+150dup
NM_003321.5:c.247+146_247+150dup MANE Select	NP_003312.3:n.247+146_247+150dup
NM_001365360.2:c.247+146_247+150dup	NP_001352289.1:n.247+146_247+150dup