Canonical Allele Identifier: CA2660175230

Gene: TMEM127

Linked Data

• gnomAD v4: 2-96251377-G-GCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251377_96251378insCCT , CM000664.2:g.96251377_96251378insCCT	GRCh38
NC_000002.11:g.96917115_96917116insCCT , CM000664.1:g.96917115_96917116insCCT	GRCh37
NC_000002.10:g.96280842_96280843insCCT	NCBI36
NG_027695.1:g.19636_19637insAGG , LRG_528:g.19636_19637insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2430_*2431insAGG MANE Select	ENSP00000258439.3:n.*2430_*2431insAGG
ENST00000258439.7:c.*2430_*2431insAGG	ENSP00000258439.2:n.*2430_*2431insAGG
NM_001193304.2:c.*2430_*2431insAGG	NP_001180233.1:n.*2430_*2431insAGG
NM_017849.3:c.*2430_*2431insAGG , LRG_528t1:c.*2430_*2431insAGG	NP_060319.1:n.*2430_*2431insAGG
XM_017004450.1:c.*1731_*1732insAGG	XP_016859939.1:n.*1731_*1732insAGG
XM_017004452.1:c.*2430_*2431insAGG	XP_016859941.1:n.*2430_*2431insAGG
NM_001193304.3:c.*2430_*2431insAGG	NP_001180233.1:n.*2430_*2431insAGG
NM_017849.4:c.*2430_*2431insAGG MANE Select	NP_060319.1:n.*2430_*2431insAGG