Canonical Allele Identifier: CA2467003808

Gene: TMLHE

Linked Data

• dbSNP Id: rs2067073769

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505947del , CM000685.2:g.155505947del	GRCh38
NC_000023.10:g.154735608del , CM000685.1:g.154735608del	GRCh37
NC_000023.9:g.154388802del	NCBI36
NG_021318.1:g.112015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+951del MANE Select	ENSP00000335261.3:n.995+951del
ENST00000675642.1:c.1028+951del	ENSP00000502604.1:n.1028+951del
ENST00000334398.7:c.995+951del	ENSP00000335261.3:n.995+951del
ENST00000369439.4:c.995+951del	ENSP00000358447.4:n.995+951del
NM_001184797.1:c.995+951del	NP_001171726.1:n.995+951del
NM_018196.3:c.995+951del	NP_060666.1:n.995+951del
XM_011531182.1:c.842+951del	XP_011529484.1:n.842+951del
XR_247318.1:n.1166+951del
XM_011531182.3:c.842+951del	XP_011529484.1:n.842+951del
XR_247318.3:n.1140+951del
NM_018196.4:c.995+951del MANE Select	NP_060666.1:n.995+951del
NM_001184797.2:c.995+951del	NP_001171726.1:n.995+951del