Canonical Allele Identifier: CA2215862955

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844934_28844935delinsAC , CM000678.2:g.28844934_28844935delinsAC	GRCh38
NC_000016.9:g.28856255_28856256delinsAC , CM000678.1:g.28856255_28856256delinsAC	GRCh37
NC_000016.8:g.28763756_28763757delinsAC	NCBI36
NG_008964.1:g.6474_6475delinsGT
NG_029706.2:g.3335_3336delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.519+16_519+17delinsGT MANE Select	ENSP00000322439.3:n.519+16_519+17delinsGT
ENST00000313511.7:c.519+16_519+17delinsGT	ENSP00000322439.3:n.519+16_519+17delinsGT
ENST00000561644.1:n.57+16_57+17delinsGT
ENST00000565012.1:c.*46+16_*46+17delinsGT	ENSP00000455007.1:n.*46+16_*46+17delinsGT
NM_003321.4:c.519+16_519+17delinsGT	NP_003312.3:n.519+16_519+17delinsGT
XM_011545928.1:c.519+16_519+17delinsGT	XP_011544230.1:n.519+16_519+17delinsGT
NM_001365360.1:c.519+16_519+17delinsGT	NP_001352289.1:n.519+16_519+17delinsGT
NM_003321.5:c.519+16_519+17delinsGT MANE Select	NP_003312.3:n.519+16_519+17delinsGT
NM_001365360.2:c.519+16_519+17delinsGT	NP_001352289.1:n.519+16_519+17delinsGT