Canonical Allele Identifier: CA1033957345

Gene: TMEM127

Linked Data

• gnomAD v3: 2-96251850-T-TACAGGTCCTCAGGAGATGACCAGTCCCTTTGGACCTGTACATGACCCTGTGGACTGTTCCGCACGATCATG
• gnomAD v4: 2-96251850-T-TACAGGTCCTCAGGAGATGACCAGTCCCTTTGGACCTGTACATGACCCTGTGGACTGTTCCGCACGATCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251850_96251851insACAGGTCCTCAGGAGATGACCAGTCCCTTTGGACCTGTACATGACCCTGTGGACTGTTCCGCACGATCATG , CM000664.2:g.96251850_96251851insACAGGTCCTCAGGAGATGACCAGTCCCTTTGGACCTGTACATGACCCTGTGGACTGTTCCGCACGATCATG	GRCh38
NC_000002.11:g.96917588_96917589insACAGGTCCTCAGGAGATGACCAGTCCCTTTGGACCTGTACATGACCCTGTGGACTGTTCCGCACGATCATG , CM000664.1:g.96917588_96917589insACAGGTCCTCAGGAGATGACCAGTCCCTTTGGACCTGTACATGACCCTGTGGACTGTTCCGCACGATCATG	GRCh37
NC_000002.10:g.96281315_96281316insACAGGTCCTCAGGAGATGACCAGTCCCTTTGGACCTGTACATGACCCTGTGGACTGTTCCGCACGATCATG	NCBI36
NG_027695.1:g.19163_19164insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT , LRG_528:g.19163_19164insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT MANE Select	ENSP00000258439.3:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGG...
ENST00000258439.7:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT	ENSP00000258439.2:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGG...
ENST00000432959.1:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT	ENSP00000416660.1:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGG...
NM_001193304.2:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT	NP_001180233.1:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCA...
NM_017849.3:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT , LRG_528t1:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT	NP_060319.1:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGT...
XM_017004450.1:c.*1258_*1259insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT	XP_016859939.1:n.*1258_*1259insCATGATCGTGCGGAACAGTCCACAGGGTCA...
XM_017004452.1:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT	XP_016859941.1:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCA...
NM_001193304.3:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT	NP_001180233.1:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCA...
NM_017849.4:c.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGTACAGGTCCAAAGGGACTGGTCATCTCCTGAGGACCTGT MANE Select	NP_060319.1:n.*1957_*1958insCATGATCGTGCGGAACAGTCCACAGGGTCATGT...