Canonical Allele Identifier: CA803577232

Gene: CCDC192

Linked Data

• dbSNP Id: rs1238269026
• gnomAD v3: 5-127726264-GAAAC-G
• gnomAD v4: 5-127726264-GAAAC-G
• MyVariant Identifiers: chr5:g.127061957_127061960del (hg19) ; chr5:g.127726265_127726268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127726268_127726271del , CM000667.2:g.127726268_127726271del	GRCh38
NC_000005.9:g.127061960_127061963del , CM000667.1:g.127061960_127061963del	GRCh37
NC_000005.8:g.127089859_127089862del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706942.1:c.171+18508_171+18511del	ENSP00000516662.1:n.171+18508_171+18511del
ENST00000514853.5:c.114+18508_114+18511del MANE Select	ENSP00000490579.2:n.114+18508_114+18511del
ENST00000514853.4:c.114+18508_114+18511del	ENSP00000490579.2:n.114+18508_114+18511del
XR_159059.3:n.203+18508_203+18511del
XR_246581.3:n.137+18508_137+18511del
XR_948749.1:n.128+18508_128+18511del
XR_948750.1:n.296+18508_296+18511del
XR_948751.1:n.300+16190_300+16193del
XR_948753.1:n.206+18508_206+18511del
XR_948754.1:n.205+18508_205+18511del
XR_948755.1:n.204+18508_204+18511del
XR_948756.1:n.204+18508_204+18511del
XR_948757.1:n.204+18508_204+18511del
XR_948758.1:n.204+18508_204+18511del
XR_948759.1:n.204+18508_204+18511del
XR_948760.1:n.223+18508_223+18511del
XR_948761.1:n.223+18508_223+18511del
XR_948762.1:n.204+18508_204+18511del
XR_948763.1:n.206+18508_206+18511del
XR_948764.1:n.205+18508_205+18511del
XR_948765.1:n.204+18508_204+18511del
XR_948766.1:n.204+18508_204+18511del
NM_001317938.1:c.171+18508_171+18511del	NP_001304867.1:n.171+18508_171+18511del
XM_017009806.2:c.51+18508_51+18511del	XP_016865295.1:n.51+18508_51+18511del
XM_017009807.1:c.51+18508_51+18511del	XP_016865296.1:n.51+18508_51+18511del
XM_017009809.2:c.171+18508_171+18511del	XP_016865298.1:n.171+18508_171+18511del
XM_017009810.2:c.171+18508_171+18511del	XP_016865299.1:n.171+18508_171+18511del
XM_017009811.2:c.171+18508_171+18511del	XP_016865300.1:n.171+18508_171+18511del
XM_017009812.2:c.171+18508_171+18511del	XP_016865301.1:n.171+18508_171+18511del
XM_017009813.2:c.171+18508_171+18511del	XP_016865302.1:n.171+18508_171+18511del
XM_024446203.1:c.51+18508_51+18511del	XP_024301971.1:n.51+18508_51+18511del
XR_002956177.1:n.137+18508_137+18511del
XR_948757.3:n.204+18508_204+18511del
NM_001317938.2:c.114+18508_114+18511del MANE Select	NP_001304867.2:n.114+18508_114+18511del