Canonical Allele Identifier: CA2215863326

Gene: TUFM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28845066_28845071delinsGAAGGA , CM000678.2:g.28845066_28845071delinsGAAGGA	GRCh38
NC_000016.9:g.28856387_28856392delinsGAAGGA , CM000678.1:g.28856387_28856392delinsGAAGGA	GRCh37
NC_000016.8:g.28763888_28763893delinsGAAGGA	NCBI36
NG_008964.1:g.6338_6343delinsTCCTTC
NG_029706.2:g.3467_3472delinsGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313511.8:c.415-16_415-11delinsTCCTTC MANE Select	ENSP00000322439.3:n.415-16_415-11delinsTCCTTC
ENST00000313511.7:c.415-16_415-11delinsTCCTTC	ENSP00000322439.3:n.415-16_415-11delinsTCCTTC
ENST00000565012.1:c.248-16_248-11delinsTCCTTC	ENSP00000455007.1:n.248-16_248-11delinsTCCTTC
NM_003321.4:c.415-16_415-11delinsTCCTTC	NP_003312.3:n.415-16_415-11delinsTCCTTC
XM_011545928.1:c.415-16_415-11delinsTCCTTC	XP_011544230.1:n.415-16_415-11delinsTCCTTC
NM_001365360.1:c.415-16_415-11delinsTCCTTC	NP_001352289.1:n.415-16_415-11delinsTCCTTC
NM_003321.5:c.415-16_415-11delinsTCCTTC MANE Select	NP_003312.3:n.415-16_415-11delinsTCCTTC
NM_001365360.2:c.415-16_415-11delinsTCCTTC	NP_001352289.1:n.415-16_415-11delinsTCCTTC