Canonical Allele Identifier: CA2467003791

Gene: TMLHE

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505899_155505902delinsAAGC , CM000685.2:g.155505899_155505902delinsAAGC	GRCh38
NC_000023.10:g.154735560_154735563delinsAAGC , CM000685.1:g.154735560_154735563delinsAAGC	GRCh37
NC_000023.9:g.154388754_154388757delinsAAGC	NCBI36
NG_021318.1:g.112060_112063delinsGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+996_995+999delinsGCTT MANE Select	ENSP00000335261.3:n.995+996_995+999delinsGCTT
ENST00000675642.1:c.1028+996_1028+999delinsGCTT	ENSP00000502604.1:n.1028+996_1028+999delinsGCTT
ENST00000334398.7:c.995+996_995+999delinsGCTT	ENSP00000335261.3:n.995+996_995+999delinsGCTT
ENST00000369439.4:c.995+996_995+999delinsGCTT	ENSP00000358447.4:n.995+996_995+999delinsGCTT
NM_001184797.1:c.995+996_995+999delinsGCTT	NP_001171726.1:n.995+996_995+999delinsGCTT
NM_018196.3:c.995+996_995+999delinsGCTT	NP_060666.1:n.995+996_995+999delinsGCTT
XM_011531182.1:c.842+996_842+999delinsGCTT	XP_011529484.1:n.842+996_842+999delinsGCTT
XR_247318.1:n.1166+996_1166+999delinsGCTT
XM_011531182.3:c.842+996_842+999delinsGCTT	XP_011529484.1:n.842+996_842+999delinsGCTT
XR_247318.3:n.1140+996_1140+999delinsGCTT
NM_018196.4:c.995+996_995+999delinsGCTT MANE Select	NP_060666.1:n.995+996_995+999delinsGCTT
NM_001184797.2:c.995+996_995+999delinsGCTT	NP_001171726.1:n.995+996_995+999delinsGCTT