Canonical Allele Identifier: CA2660175095

Gene: TMEM127

Linked Data

• gnomAD v4: 2-96251252-TCATGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251254_96251258del , CM000664.2:g.96251254_96251258del	GRCh38
NC_000002.11:g.96916992_96916996del , CM000664.1:g.96916992_96916996del	GRCh37
NC_000002.10:g.96280719_96280723del	NCBI36
NG_027695.1:g.19757_19761del , LRG_528:g.19757_19761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2551_*2555del MANE Select	ENSP00000258439.3:n.*2551_*2555del
ENST00000258439.7:c.*2551_*2555del	ENSP00000258439.2:n.*2551_*2555del
NM_001193304.2:c.*2551_*2555del	NP_001180233.1:n.*2551_*2555del
NM_017849.3:c.*2551_*2555del , LRG_528t1:c.*2551_*2555del	NP_060319.1:n.*2551_*2555del
XM_017004450.1:c.*1852_*1856del	XP_016859939.1:n.*1852_*1856del
XM_017004452.1:c.*2551_*2555del	XP_016859941.1:n.*2551_*2555del
NM_001193304.3:c.*2551_*2555del	NP_001180233.1:n.*2551_*2555del
NM_017849.4:c.*2551_*2555del MANE Select	NP_060319.1:n.*2551_*2555del