Canonical Allele Identifier: CA708731931

Gene: TMED8

Linked Data

• dbSNP Id: rs1472379161
• gnomAD v3: 14-77338966-ACTTT-A
• gnomAD v4: 14-77338966-ACTTT-A
• MyVariant Identifiers: chr14:g.77805310_77805313del (hg19) ; chr14:g.77338967_77338970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77338972_77338975del , CM000676.2:g.77338972_77338975del	GRCh38
NC_000014.8:g.77805315_77805318del , CM000676.1:g.77805315_77805318del	GRCh37
NC_000014.7:g.76875068_76875071del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216468.8:c.*2801_*2804del MANE Select	ENSP00000216468.7:n.*2801_*2804del
ENST00000216468.7:c.*2801_*2804del	ENSP00000216468.7:n.*2801_*2804del
XM_005267544.3:c.*2801_*2804del	XP_005267601.1:n.*2801_*2804del
NM_001346131.1:c.*2801_*2804del	NP_001333060.1:n.*2801_*2804del
NM_001346133.1:c.*2801_*2804del	NP_001333062.1:n.*2801_*2804del
NM_001346134.1:c.*2801_*2804del	NP_001333063.1:n.*2801_*2804del
NM_213601.2:c.*2801_*2804del	NP_998766.1:n.*2801_*2804del
XM_017021224.1:c.*2801_*2804del	XP_016876713.1:n.*2801_*2804del
NM_213601.3:c.*2801_*2804del MANE Select	NP_998766.1:n.*2801_*2804del
NM_001346131.2:c.*2801_*2804del	NP_001333060.1:n.*2801_*2804del
NM_001346133.2:c.*2801_*2804del	NP_001333062.1:n.*2801_*2804del