Canonical Allele Identifier: CA2215862890

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28844912_28844913delinsCA , CM000678.2:g.28844912_28844913delinsCA	GRCh38
NC_000016.9:g.28856233_28856234delinsCA , CM000678.1:g.28856233_28856234delinsCA	GRCh37
NC_000016.8:g.28763734_28763735delinsCA	NCBI36
NG_008964.1:g.6496_6497delinsTG
NG_029706.2:g.3313_3314delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.519+38_519+39delinsTG MANE Select	ENSP00000322439.3:n.519+38_519+39delinsTG
ENST00000313511.7:c.519+38_519+39delinsTG	ENSP00000322439.3:n.519+38_519+39delinsTG
ENST00000561644.1:n.57+38_57+39delinsTG
ENST00000565012.1:c.*46+38_*46+39delinsTG	ENSP00000455007.1:n.*46+38_*46+39delinsTG
NM_003321.4:c.519+38_519+39delinsTG	NP_003312.3:n.519+38_519+39delinsTG
XM_011545928.1:c.519+38_519+39delinsTG	XP_011544230.1:n.519+38_519+39delinsTG
NM_001365360.1:c.519+38_519+39delinsTG	NP_001352289.1:n.519+38_519+39delinsTG
NM_003321.5:c.519+38_519+39delinsTG MANE Select	NP_003312.3:n.519+38_519+39delinsTG
NM_001365360.2:c.519+38_519+39delinsTG	NP_001352289.1:n.519+38_519+39delinsTG