Canonical Allele Identifier: CA803582838

Gene: CCDC192

Linked Data

• dbSNP Id: rs1415374964
• gnomAD v3: 5-127833284-ATCT-A
• gnomAD v4: 5-127833284-ATCT-A
• MyVariant Identifiers: chr5:g.127168977_127168979del (hg19) ; chr5:g.127833285_127833287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.127833286_127833288del , CM000667.2:g.127833286_127833288del	GRCh38
NC_000005.9:g.127168978_127168980del , CM000667.1:g.127168978_127168980del	GRCh37
NC_000005.8:g.127196877_127196879del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706942.1:c.468+35124_468+35126del	ENSP00000516662.1:n.468+35124_468+35126del
ENST00000514853.5:c.411+35124_411+35126del MANE Select	ENSP00000490579.2:n.411+35124_411+35126del
ENST00000514853.4:c.411+35124_411+35126del	ENSP00000490579.2:n.411+35124_411+35126del
XR_159059.3:n.500+35124_500+35126del
XR_246581.3:n.434+35124_434+35126del
XR_246582.2:n.366+35124_366+35126del
XR_948747.1:n.305-5869_305-5867del
XR_948748.1:n.396+35124_396+35126del
XR_948749.1:n.425+35124_425+35126del
XR_948750.1:n.593+35124_593+35126del
XR_948751.1:n.597+35124_597+35126del
XR_948752.1:n.316+35124_316+35126del
XR_948753.1:n.503+35124_503+35126del
XR_948754.1:n.502+35124_502+35126del
XR_948755.1:n.501+35124_501+35126del
XR_948756.1:n.501+35124_501+35126del
XR_948757.1:n.501+35124_501+35126del
XR_948758.1:n.501+35124_501+35126del
XR_948759.1:n.501+35124_501+35126del
XR_948761.1:n.521-16021_521-16019del
XR_948762.1:n.501+35124_501+35126del
XR_948764.1:n.502+35124_502+35126del
XR_948765.1:n.501+35124_501+35126del
XR_948766.1:n.502-5321_502-5319del
NM_001317938.1:c.468+35124_468+35126del	NP_001304867.1:n.468+35124_468+35126del
XM_017009805.1:c.381+35124_381+35126del	XP_016865294.1:n.381+35124_381+35126del
XM_017009806.2:c.348+35124_348+35126del	XP_016865295.1:n.348+35124_348+35126del
XM_017009807.1:c.348+35124_348+35126del	XP_016865296.1:n.348+35124_348+35126del
XM_017009808.1:c.306+35124_306+35126del	XP_016865297.1:n.306+35124_306+35126del
XM_017009809.2:c.468+35124_468+35126del	XP_016865298.1:n.468+35124_468+35126del
XM_017009810.2:c.468+35124_468+35126del	XP_016865299.1:n.468+35124_468+35126del
XM_017009811.2:c.468+35124_468+35126del	XP_016865300.1:n.468+35124_468+35126del
XM_017009812.2:c.468+35124_468+35126del	XP_016865301.1:n.468+35124_468+35126del
XM_017009813.2:c.469-5321_469-5319del	XP_016865302.1:n.469-5321_469-5319del
XM_024446203.1:c.348+35124_348+35126del	XP_024301971.1:n.348+35124_348+35126del
XR_002956177.1:n.434+35124_434+35126del
XR_948757.3:n.501+35124_501+35126del
NM_001317938.2:c.411+35124_411+35126del MANE Select	NP_001304867.2:n.411+35124_411+35126del