Canonical Allele Identifier: CA708731955

Gene: TMED8

Linked Data

• dbSNP Id: rs1185589746
• gnomAD v3: 14-77339133-C-CAT
• gnomAD v4: 14-77339133-C-CAT
• MyVariant Identifiers: chr14:g.77805476_77805477insAT (hg19) ; chr14:g.77339133_77339134insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77339133_77339134insAT , CM000676.2:g.77339133_77339134insAT	GRCh38
NC_000014.8:g.77805476_77805477insAT , CM000676.1:g.77805476_77805477insAT	GRCh37
NC_000014.7:g.76875229_76875230insAT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216468.8:c.*2637_*2638insAT MANE Select	ENSP00000216468.7:n.*2637_*2638insAT
ENST00000216468.7:c.*2637_*2638insAT	ENSP00000216468.7:n.*2637_*2638insAT
XM_005267544.3:c.*2637_*2638insAT	XP_005267601.1:n.*2637_*2638insAT
NM_001346131.1:c.*2637_*2638insAT	NP_001333060.1:n.*2637_*2638insAT
NM_001346133.1:c.*2637_*2638insAT	NP_001333062.1:n.*2637_*2638insAT
NM_001346134.1:c.*2637_*2638insAT	NP_001333063.1:n.*2637_*2638insAT
NM_213601.2:c.*2637_*2638insAT	NP_998766.1:n.*2637_*2638insAT
XM_017021224.1:c.*2637_*2638insAT	XP_016876713.1:n.*2637_*2638insAT
NM_213601.3:c.*2637_*2638insAT MANE Select	NP_998766.1:n.*2637_*2638insAT
NM_001346131.2:c.*2637_*2638insAT	NP_001333060.1:n.*2637_*2638insAT
NM_001346133.2:c.*2637_*2638insAT	NP_001333062.1:n.*2637_*2638insAT