Canonical Allele Identifier: CA144434

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 56763
• ClinVar RCV Id: RCV000050176
• dbSNP Id: rs386834181
• MyVariant Identifiers: chr8:g.94793973del (hg19) ; chr8:g.93781745del (hg38)
• PubMed: PMID:17397051

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93781745del , CM000670.2:g.93781745del	GRCh38
NC_000008.10:g.94793973del , CM000670.1:g.94793973del	GRCh37
NC_000008.9:g.94863149del	NCBI36
NG_009190.1:g.31902del , LRG_688:g.31902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.1065+1del
ENST00000409623.8:c.1065+1del
ENST00000452276.6:c.1065+1del
ENST00000453906.6:c.407-4478del	ENSP00000403035.2:n.407-4478del
ENST00000520680.2:c.1065+1del
ENST00000521065.2:c.*782+1del
ENST00000521517.6:c.1065+1del
ENST00000681998.1:c.886+1del
ENST00000682036.1:c.407-4478del	ENSP00000508390.1:n.407-4478del
ENST00000682577.1:c.995+1del
ENST00000682624.1:c.*639+1del
ENST00000682700.1:c.1065+1del
ENST00000682744.1:n.603+1del
ENST00000682804.1:n.888+1del
ENST00000682837.1:c.711+1del
ENST00000682935.1:n.2625+1del
ENST00000682984.1:c.726+1del
ENST00000683078.1:c.820+1del
ENST00000683223.1:c.797+1del
ENST00000683238.1:n.2446+1del
ENST00000683249.1:n.2662+1del
ENST00000683336.1:c.886+1del
ENST00000683362.1:c.726+1del
ENST00000683850.1:n.988+1del
ENST00000683919.1:c.995+1del
ENST00000683953.1:c.976+1del
ENST00000684023.1:c.1199+1del
ENST00000684064.1:c.756+1del
ENST00000684089.1:n.2615+1del
ENST00000684149.1:c.*401+1del
ENST00000684416.1:n.1024+1del
ENST00000684540.1:c.995+1del
ENST00000453321.8:c.1065+1del
ENST00000323130.7:c.1035+1del
ENST00000409623.7:c.822+1del
ENST00000425545.2:n.512+1del
ENST00000452276.5:c.756+1del
ENST00000453321.7:c.1065+1del
ENST00000453906.5:c.407-4478del	ENSP00000403035.1:n.407-4478del
ENST00000474944.5:n.427-4478del
NM_001142301.1:c.822+1del , LRG_688t2:c.822+1del
NM_153704.5:c.1065+1del , LRG_688t1:c.1065+1del
NR_024522.1:n.1136+1del
XM_006716686.2:c.762+1del
XM_006716687.2:c.465+1del
XM_011517363.1:c.407-4478del	XP_011515665.1:n.407-4478del
XR_428387.1:n.1123+1del
XR_928360.1:n.1123+1del
XR_928361.1:n.1123+1del
XR_928362.1:n.1123+1del
XM_006716686.4:c.762+1del
XM_011517363.3:c.407-4478del	XP_011515665.1:n.407-4478del
XM_024447326.1:c.411+1del
XR_001745619.2:n.1106+1del
XR_428387.2:n.1106+1del
XR_928360.3:n.1106+1del
XR_928362.3:n.1106+1del
NM_153704.6:c.1065+1del
NR_024522.2:n.1086+1del